FGFR2 유전자의 8번째 엑손부위의 P253R 돌연변이로 진단된 Apert 증후군 1례

Apert syndrome is a rare congenital anomaly characterized by craniofacial malformations and severe symmetrical syndactyly of fingers and toes. This syndrome is caused by a genetic mutation; the S253 mutation is common, though the P253R mutation is not as frequent. Common symptoms include skeletal ma...

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Bibliographic Details
Published inJournal of genetic medicine Vol. 7; no. 2; pp. 151 - 155
Main Authors 이영진(Young Jin Lee), 고정민(Jung Min Ko), 박성식(Seong Shik Park), 전종근(Chong Kun Cheon)
Format Journal Article
LanguageKorean
Published The Korean Society of Medical Genetics 30.12.2010
대한의학유전학회
Subjects
의학일반
Apert syndrome
FGFR2 gene
P253R mutation
Craniofacial malformation
Online AccessGet full text
ISSN1226-1769
2233-9108
2383-8442

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