The Experts below are selected from a list of 1293 Experts worldwide ranked by ideXlab platform
Shrimati Shetty - One of the best experts on this subject based on the ideXlab platform.
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novel deleterious sequence change in the nlrp12 gene in a child with the autoinflammatory syndrome joint hypermobility and cutis laxa from india
Mediterranean Journal of Hematology and Infectious Diseases, 2019Co-Authors: Kanjaksha Ghosh, Kanchan Mishra, Avani Shah, Parizad Patel, Shrimati ShettyAbstract:An otherwise healthy male child of 9 years presented with Paroxysmal fever and diffuse abdominal pain along with the loss of appetite and nausea lasting for 3-4 days every 4-6 weeks in the last two years. He also has stretchable skin and hypermobile joints, inherited from his mother who never suffered any Paroxysmal Attack of the kind. Work up for acute intermittent porphyria, lead poisoning, and familial Mediterranean fever was negative. A novel harmful sequence change in the NLRP12 gene was detected, and a diagnosis of NLRP12 associated autoinflammatory syndrome was made. This sequence change within the NLRP12 gene causing disease has not yet been reported in the literature and is the first such a case reported from India.
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Novel deleterious sequence change in the NLRP12 gene in a child with autoinflammatory syndrome, joint hypermobility and cutis laxa from India.
PAGEPress Publications, 2019Co-Authors: Kanjaksha Ghosh, Kanchan Mishra, Avani Shah, Parizad Patel, Shrimati ShettyAbstract:An otherwise healthy male child of 9 years presented with Paroxysmal fever and diffuse abdominal pain along with loss of appetite and nausea lasting for 3-4days every 4-6 weeks for last 2 years. He also has stretchable skin and hypermobile joint which he inherited from his mother who never suffered any Paroxysmal Attack of the kind. Work up for acute intermittent porphyria, lead poisoning and familial mediterranean fever was negative. A novel harmful sequence change in NLRP12 gene was detected and a diagnosis of NLRP12 associated autoinflammatory syndrome was made. This sequence change with disease has not yet been reported in the literature and is the first such case of NLRP12 related autoinflammatory syndrome from India
Kanjaksha Ghosh - One of the best experts on this subject based on the ideXlab platform.
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novel deleterious sequence change in the nlrp12 gene in a child with the autoinflammatory syndrome joint hypermobility and cutis laxa from india
Mediterranean Journal of Hematology and Infectious Diseases, 2019Co-Authors: Kanjaksha Ghosh, Kanchan Mishra, Avani Shah, Parizad Patel, Shrimati ShettyAbstract:An otherwise healthy male child of 9 years presented with Paroxysmal fever and diffuse abdominal pain along with the loss of appetite and nausea lasting for 3-4 days every 4-6 weeks in the last two years. He also has stretchable skin and hypermobile joints, inherited from his mother who never suffered any Paroxysmal Attack of the kind. Work up for acute intermittent porphyria, lead poisoning, and familial Mediterranean fever was negative. A novel harmful sequence change in the NLRP12 gene was detected, and a diagnosis of NLRP12 associated autoinflammatory syndrome was made. This sequence change within the NLRP12 gene causing disease has not yet been reported in the literature and is the first such a case reported from India.
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Novel deleterious sequence change in the NLRP12 gene in a child with autoinflammatory syndrome, joint hypermobility and cutis laxa from India.
PAGEPress Publications, 2019Co-Authors: Kanjaksha Ghosh, Kanchan Mishra, Avani Shah, Parizad Patel, Shrimati ShettyAbstract:An otherwise healthy male child of 9 years presented with Paroxysmal fever and diffuse abdominal pain along with loss of appetite and nausea lasting for 3-4days every 4-6 weeks for last 2 years. He also has stretchable skin and hypermobile joint which he inherited from his mother who never suffered any Paroxysmal Attack of the kind. Work up for acute intermittent porphyria, lead poisoning and familial mediterranean fever was negative. A novel harmful sequence change in NLRP12 gene was detected and a diagnosis of NLRP12 associated autoinflammatory syndrome was made. This sequence change with disease has not yet been reported in the literature and is the first such case of NLRP12 related autoinflammatory syndrome from India
Kanchan Mishra - One of the best experts on this subject based on the ideXlab platform.
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novel deleterious sequence change in the nlrp12 gene in a child with the autoinflammatory syndrome joint hypermobility and cutis laxa from india
Mediterranean Journal of Hematology and Infectious Diseases, 2019Co-Authors: Kanjaksha Ghosh, Kanchan Mishra, Avani Shah, Parizad Patel, Shrimati ShettyAbstract:An otherwise healthy male child of 9 years presented with Paroxysmal fever and diffuse abdominal pain along with the loss of appetite and nausea lasting for 3-4 days every 4-6 weeks in the last two years. He also has stretchable skin and hypermobile joints, inherited from his mother who never suffered any Paroxysmal Attack of the kind. Work up for acute intermittent porphyria, lead poisoning, and familial Mediterranean fever was negative. A novel harmful sequence change in the NLRP12 gene was detected, and a diagnosis of NLRP12 associated autoinflammatory syndrome was made. This sequence change within the NLRP12 gene causing disease has not yet been reported in the literature and is the first such a case reported from India.
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Novel deleterious sequence change in the NLRP12 gene in a child with autoinflammatory syndrome, joint hypermobility and cutis laxa from India.
PAGEPress Publications, 2019Co-Authors: Kanjaksha Ghosh, Kanchan Mishra, Avani Shah, Parizad Patel, Shrimati ShettyAbstract:An otherwise healthy male child of 9 years presented with Paroxysmal fever and diffuse abdominal pain along with loss of appetite and nausea lasting for 3-4days every 4-6 weeks for last 2 years. He also has stretchable skin and hypermobile joint which he inherited from his mother who never suffered any Paroxysmal Attack of the kind. Work up for acute intermittent porphyria, lead poisoning and familial mediterranean fever was negative. A novel harmful sequence change in NLRP12 gene was detected and a diagnosis of NLRP12 associated autoinflammatory syndrome was made. This sequence change with disease has not yet been reported in the literature and is the first such case of NLRP12 related autoinflammatory syndrome from India
Avani Shah - One of the best experts on this subject based on the ideXlab platform.
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novel deleterious sequence change in the nlrp12 gene in a child with the autoinflammatory syndrome joint hypermobility and cutis laxa from india
Mediterranean Journal of Hematology and Infectious Diseases, 2019Co-Authors: Kanjaksha Ghosh, Kanchan Mishra, Avani Shah, Parizad Patel, Shrimati ShettyAbstract:An otherwise healthy male child of 9 years presented with Paroxysmal fever and diffuse abdominal pain along with the loss of appetite and nausea lasting for 3-4 days every 4-6 weeks in the last two years. He also has stretchable skin and hypermobile joints, inherited from his mother who never suffered any Paroxysmal Attack of the kind. Work up for acute intermittent porphyria, lead poisoning, and familial Mediterranean fever was negative. A novel harmful sequence change in the NLRP12 gene was detected, and a diagnosis of NLRP12 associated autoinflammatory syndrome was made. This sequence change within the NLRP12 gene causing disease has not yet been reported in the literature and is the first such a case reported from India.
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Novel deleterious sequence change in the NLRP12 gene in a child with autoinflammatory syndrome, joint hypermobility and cutis laxa from India.
PAGEPress Publications, 2019Co-Authors: Kanjaksha Ghosh, Kanchan Mishra, Avani Shah, Parizad Patel, Shrimati ShettyAbstract:An otherwise healthy male child of 9 years presented with Paroxysmal fever and diffuse abdominal pain along with loss of appetite and nausea lasting for 3-4days every 4-6 weeks for last 2 years. He also has stretchable skin and hypermobile joint which he inherited from his mother who never suffered any Paroxysmal Attack of the kind. Work up for acute intermittent porphyria, lead poisoning and familial mediterranean fever was negative. A novel harmful sequence change in NLRP12 gene was detected and a diagnosis of NLRP12 associated autoinflammatory syndrome was made. This sequence change with disease has not yet been reported in the literature and is the first such case of NLRP12 related autoinflammatory syndrome from India
Parizad Patel - One of the best experts on this subject based on the ideXlab platform.
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novel deleterious sequence change in the nlrp12 gene in a child with the autoinflammatory syndrome joint hypermobility and cutis laxa from india
Mediterranean Journal of Hematology and Infectious Diseases, 2019Co-Authors: Kanjaksha Ghosh, Kanchan Mishra, Avani Shah, Parizad Patel, Shrimati ShettyAbstract:An otherwise healthy male child of 9 years presented with Paroxysmal fever and diffuse abdominal pain along with the loss of appetite and nausea lasting for 3-4 days every 4-6 weeks in the last two years. He also has stretchable skin and hypermobile joints, inherited from his mother who never suffered any Paroxysmal Attack of the kind. Work up for acute intermittent porphyria, lead poisoning, and familial Mediterranean fever was negative. A novel harmful sequence change in the NLRP12 gene was detected, and a diagnosis of NLRP12 associated autoinflammatory syndrome was made. This sequence change within the NLRP12 gene causing disease has not yet been reported in the literature and is the first such a case reported from India.
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Novel deleterious sequence change in the NLRP12 gene in a child with autoinflammatory syndrome, joint hypermobility and cutis laxa from India.
PAGEPress Publications, 2019Co-Authors: Kanjaksha Ghosh, Kanchan Mishra, Avani Shah, Parizad Patel, Shrimati ShettyAbstract:An otherwise healthy male child of 9 years presented with Paroxysmal fever and diffuse abdominal pain along with loss of appetite and nausea lasting for 3-4days every 4-6 weeks for last 2 years. He also has stretchable skin and hypermobile joint which he inherited from his mother who never suffered any Paroxysmal Attack of the kind. Work up for acute intermittent porphyria, lead poisoning and familial mediterranean fever was negative. A novel harmful sequence change in NLRP12 gene was detected and a diagnosis of NLRP12 associated autoinflammatory syndrome was made. This sequence change with disease has not yet been reported in the literature and is the first such case of NLRP12 related autoinflammatory syndrome from India