Analysis of clinical manifestations and genetic mutations in a family with congenital contractural arachnodactyly

罗燕飞，李娟，米热古丽·买买提，等

doi:10.3969/j.issn.1000-3606.2019.11.011

Journal of Clinical Pediatrics >

2019 , Vol. 37 >Issue 11: 843

DOI: https://doi.org/10.3969/j.issn.1000-3606.2019.11.011

Analysis of clinical manifestations and genetic mutations in a family with congenital contractural arachnodactyly

罗燕飞，李娟，米热古丽·买买提，等

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Department of Neurology, Children’s Hospital of Chongqing Medical University; Ministry of Education Key Laboratory of Child Development and Disorders; China international Science and Technology Cooperation Base of Development and Critical Disorders; Chongqing Key Laboratory of Pediatrics, Chongqing, 400014, China

Online published: 2020-02-03

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Department of Neurology, Children’s Hospital of Chongqing Medical University; Ministry of Education Key Laboratory of Child Development and Disorders; China international Science and Technology Cooperation Base of Development and Critical Disorders; Chongqing Key Laboratory of Pediatrics, Chongqing, 400014, China

Key words： Xia-Gibbs syndrome;　AHDC1 mutation;　whole exon sequencing;　child

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罗燕飞，李娟，米热古丽·买买提，等 . Analysis of clinical manifestations and genetic mutations in a family with congenital contractural arachnodactyly[J]. Journal of Clinical Pediatrics, 2019 , 37(11) : 843 . DOI: 10.3969/j.issn.1000-3606.2019.11.011

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