First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel variant c.118G>C p.(Glu40Gln)

First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel variant c.118G>C p.(Glu40Gln)

Tatton-Brown-Rahman Syndrome (TBRS), an overgrowth syndrome caused by heterozygous mutation of DNMT3A, first was described in 2014. Approximately 60 DNMT3A variants, including 32 missense variants, have been reported, with most missense mutations located on the DNMT3A functional domains. Autosomal d...

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Bibliographic Details
Main Authors: Cha Gon Lee, Ja-Hyun Jang, Ji-Young Seo
Format: Article
Language:English
Published: Korean Society of Pediatric Endocrinology 2019-12-01
Series:Annals of Pediatric Endocrinology & Metabolism
Subjects:
germ-line mutation
tatton-brown-rahman syndrome
growth disorder
intellectual disability
high throughput nucleotide sequencing
dna sequence analysis
Online Access:http://e-apem.org/upload/pdf/apem-2019-24-4-253.pdf

Internet

http://e-apem.org/upload/pdf/apem-2019-24-4-253.pdf

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