The Experts below are selected from a list of 300 Experts worldwide ranked by ideXlab platform
Michael Hsiao - One of the best experts on this subject based on the ideXlab platform.
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mutation in the fgfr2 gene in a taiwanese patient with beare Stevenson cutis gyrata syndrome
Clinical Genetics, 2002Co-Authors: Tzu Jou Wang, C B Huang, Fuu Jen Tsai, R B Lai, Michael HsiaoAbstract:The present authors report the first case of Beare-Stevenson syndrome in Taiwan. The patient shares several clinical characteristics of Beare-Stevenson syndrome such as cutis gyrata, cloverleaf skull, prominent eyes, cleft palate, ear defects and a protruding umbilical stump. Molecular genetic analysis of the FGFR2 gene in this patient's DNA revealed a missense A --> G mutation on nucleotide 1303 of the FGFR2 cDNA. This mutation leads to a Tyr --> Cys substitution at residue 375 located at the N-terminal end of the transmembrane domain of FGFR2. The present results are in accordance with other previously published reports and strengthen the importance of the FGFR2 gene in the pathogenesis of Beare-Stevenson syndrome.
Tzu Jou Wang - One of the best experts on this subject based on the ideXlab platform.
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mutation in the fgfr2 gene in a taiwanese patient with beare Stevenson cutis gyrata syndrome
Clinical Genetics, 2002Co-Authors: Tzu Jou Wang, C B Huang, Fuu Jen Tsai, R B Lai, Michael HsiaoAbstract:The present authors report the first case of Beare-Stevenson syndrome in Taiwan. The patient shares several clinical characteristics of Beare-Stevenson syndrome such as cutis gyrata, cloverleaf skull, prominent eyes, cleft palate, ear defects and a protruding umbilical stump. Molecular genetic analysis of the FGFR2 gene in this patient's DNA revealed a missense A --> G mutation on nucleotide 1303 of the FGFR2 cDNA. This mutation leads to a Tyr --> Cys substitution at residue 375 located at the N-terminal end of the transmembrane domain of FGFR2. The present results are in accordance with other previously published reports and strengthen the importance of the FGFR2 gene in the pathogenesis of Beare-Stevenson syndrome.
C B Huang - One of the best experts on this subject based on the ideXlab platform.
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mutation in the fgfr2 gene in a taiwanese patient with beare Stevenson cutis gyrata syndrome
Clinical Genetics, 2002Co-Authors: Tzu Jou Wang, C B Huang, Fuu Jen Tsai, R B Lai, Michael HsiaoAbstract:The present authors report the first case of Beare-Stevenson syndrome in Taiwan. The patient shares several clinical characteristics of Beare-Stevenson syndrome such as cutis gyrata, cloverleaf skull, prominent eyes, cleft palate, ear defects and a protruding umbilical stump. Molecular genetic analysis of the FGFR2 gene in this patient's DNA revealed a missense A --> G mutation on nucleotide 1303 of the FGFR2 cDNA. This mutation leads to a Tyr --> Cys substitution at residue 375 located at the N-terminal end of the transmembrane domain of FGFR2. The present results are in accordance with other previously published reports and strengthen the importance of the FGFR2 gene in the pathogenesis of Beare-Stevenson syndrome.
R B Lai - One of the best experts on this subject based on the ideXlab platform.
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mutation in the fgfr2 gene in a taiwanese patient with beare Stevenson cutis gyrata syndrome
Clinical Genetics, 2002Co-Authors: Tzu Jou Wang, C B Huang, Fuu Jen Tsai, R B Lai, Michael HsiaoAbstract:The present authors report the first case of Beare-Stevenson syndrome in Taiwan. The patient shares several clinical characteristics of Beare-Stevenson syndrome such as cutis gyrata, cloverleaf skull, prominent eyes, cleft palate, ear defects and a protruding umbilical stump. Molecular genetic analysis of the FGFR2 gene in this patient's DNA revealed a missense A --> G mutation on nucleotide 1303 of the FGFR2 cDNA. This mutation leads to a Tyr --> Cys substitution at residue 375 located at the N-terminal end of the transmembrane domain of FGFR2. The present results are in accordance with other previously published reports and strengthen the importance of the FGFR2 gene in the pathogenesis of Beare-Stevenson syndrome.
Fuu Jen Tsai - One of the best experts on this subject based on the ideXlab platform.
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mutation in the fgfr2 gene in a taiwanese patient with beare Stevenson cutis gyrata syndrome
Clinical Genetics, 2002Co-Authors: Tzu Jou Wang, C B Huang, Fuu Jen Tsai, R B Lai, Michael HsiaoAbstract:The present authors report the first case of Beare-Stevenson syndrome in Taiwan. The patient shares several clinical characteristics of Beare-Stevenson syndrome such as cutis gyrata, cloverleaf skull, prominent eyes, cleft palate, ear defects and a protruding umbilical stump. Molecular genetic analysis of the FGFR2 gene in this patient's DNA revealed a missense A --> G mutation on nucleotide 1303 of the FGFR2 cDNA. This mutation leads to a Tyr --> Cys substitution at residue 375 located at the N-terminal end of the transmembrane domain of FGFR2. The present results are in accordance with other previously published reports and strengthen the importance of the FGFR2 gene in the pathogenesis of Beare-Stevenson syndrome.