Browsing "Medical Genetics" by Keyword : Family

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Showing results 1 to 3 of 3

Pub YearTitleAJOU Author(s)
2012Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature손영배
2014First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.손영배
2017Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies김정현
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