A Korean Girl with Campomelic Dysplasia caused by a Novel Nonsense Mutation within the SOX9 Gene | Zendy

Jung Min Ko | Zendy; J. Hun Hah | Zendy; Sukwha Kim | Zendy; TaeJoon Cho | Zendy; Gu-Hwan Kim | Zendy; HanWook Yoo | Zendy

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A Korean Girl with Campomelic Dysplasia caused by a Novel Nonsense Mutation within the SOX9 Gene

Author(s) -

Jung Min Ko,

J. Hun Hah,

Sukwha Kim,

TaeJoon Cho,

Gu-Hwan Kim,

HanWook Yoo

Publication year - 2012

Publication title -

journal of genetic medicine

Language(s) - English

Resource type - Journals

eISSN - 2233-9108

pISSN - 1226-1769

DOI - 10.5734/jgm.2012.9.2.89

Subject(s) - nonsense mutation , hypertelorism , sox9 , failure to thrive , hypoplasia , genetics , medicine , girl , mutation , pediatrics , biology , anatomy , missense mutation , gene , gene expression

period, and respiratory distress due to laryngotracheomalacia contributes to neonatal death in these patients. Therefore, only a few patients with CMD survive past infancy. Survivors beyond infancy may also have scoliosis, short stature, and hearing loss with age. CMD is caused by haploinsufficiency of the SOX9 gene at 17q24. The SOX9 protein is widely expressed as a transcription factor in many different tissues and organs during embryonic development and has also been suggested to play critical roles in the initiation and maintenance of chondrocyte differentiation and in male sex differentiation along with SRY. 4) Only one report of a genetically-confirmed CMD case in Korea is available. A Korean Girl with Campomelic Dysplasia caused by a Novel Nonsense Mutation within the SOX9 Gene

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