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First Korean Case of Renpenning Syndrome with Novel Mutation in

Authors :
Hye-In, Jeong
Aram, Yang
Jinsup, Kim
Ja-Hyun, Jang
Sung Yoon, Cho
Dong-Kyu, Jin
Source :
Annals of clinical and laboratory science. 48(4)
Publication Year :
2018

Abstract

Renpenning syndrome is a rare X-linked disorder characterized by mental retardation, leanness, microcephaly, facial dysmorphism, short stature, and small testes. This disease is caused by

Details

ISSN :
15508080
Volume :
48
Issue :
4
Database :
OpenAIRE
Journal :
Annals of clinical and laboratory science
Accession number :
edsair.pmid..........3f062bc44a8bf7e7c77e9b38ab8b37d9