COL2A1 유전자의 새로운 돌연변이에 의한 제 1형 Stickler 증후군으로 진단된 1례

Stickler syndrome is a very rare connective tissue disorder. The authors of the present study describe an 11-month-old girl with high myopia, retinal abnormalities, flat nose, cleft palate, retrognathia, micrognathia, short stature and arthrogryposis. Radiological evaluation also showed irregularity...

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Bibliographic Details
Published inJournal of genetic medicine Vol. 8; no. 2; pp. 125 - 129
Main Authors 이진(Jin Lee), 정창우(Chang Woo Jung), 김구환(Gu-Hwan Kim), 이범희(Beom Hee Lee), 최진호(Jin-Ho Choi), 유한욱(Han-Wook Yoo)
Format Journal Article
LanguageKorean
Published The Korean Society of Medical Genetics 01.12.2011
대한의학유전학회
Subjects
의학일반
Stickler syndrome
COL2A1
Missense mutation
Online AccessGet full text
ISSN1226-1769
2233-9108
2383-8442

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  • 서론 증례 고찰 국문초록 References