한국인 Kabuki 증후군 환아들의 임상적 표현형 및 세포유전학적 양상

Purpose : Kabuki syndrome is a multiple congenital malformation syndrome with mental retardation. It was named after its characteristic appearance, a face resembling that of an actor in a Kabuki play. To date, six Korean cases of Kabuki syndrome have ever been reported. Here, we present the phenotyp...

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Bibliographic Details
Published inJournal of genetic medicine Vol. 7; no. 1; pp. 37 - 44
Main Authors 고정민(Jung Min Ko), 황정민(Jeong-Min Hwang), 김현주(Hyon-Ju Kim)
Format Journal Article
LanguageKorean
Published The Korean Society of Medical Genetics 30.06.2010
대한의학유전학회
Subjects
의학일반
Kabuki syndrome
Dysmorphism
Long palpebral fissure
Strabismus
Fetal pad
Mental retardation
Online AccessGet full text
ISSN1226-1769
2233-9108
2383-8442

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  • 서론 대상 및 방법 고찰 국문초록 참고문헌