TWIST1 유전자의 돌연변이가 확인된 Saethre-Chotzen 증후군 2례

Saethre-Chotzen syndrome is an autosomal dominant craniosynostosis syndrome, usually involving unior bilateral coronal synostosis and mild limb deformities, and is induced by loss-of-function mutations of the TWIST1 gene. Other clinical features of this syndrome include ptosis, low-set ears, hearing...

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Bibliographic Details
Published inJournal of genetic medicine Vol. 8; no. 2; pp. 130 - 134
Main Authors 고정민(Jung Min Ko), 양정아(Jung-Ah Yang), 정선용(Seon-Yong Jeong), 윤수한(Soo Han Yoon)
Format Journal Article
LanguageKorean
Published The Korean Society of Medical Genetics 01.12.2011
대한의학유전학회
Subjects
의학일반
Coronal synostosis
TWIST1
Brachycephaly
Craniosynostosis
Online AccessGet full text
ISSN1226-1769
2233-9108
2383-8442

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  • 서론 증례 1 증례 2 고찰 국문초록 References