First female Korean child with Coffin-Lowry syndrome: a novel variant in diagnosed by exome sequencing and a literature review

First female Korean child with Coffin-Lowry syndrome: a novel variant in diagnosed by exome sequencing and a literature review

Coffin-Lowry syndrome (CLS, OMIM # 303600) is a rare X-linked disorder caused by mutations in RPS6KA3. CLS is characterized by facial dysmorphism, digit abnormalities, developmental delays, growth retardation, and progressive skeletal changes in male patients. Females with CLS are variably affected,...

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Bibliographic Details
Main Authors: Ari Song, Minji Im, Min-Sun Kim, Eu Seon Noh, Chiwoo Kim, Jahyun Jang, Sae-Mi Lee, Chang-Seok Ki, Sung Yoon Cho, Dong-Kyu Jin
Format: Article
Language:English
Published: Korean Society of Pediatric Endocrinology 2022-01-01
Series:Annals of Pediatric Endocrinology & Metabolism
Subjects:
coffin-lowry syndrome
x-linked inheritance
short stature
developmental delay
Online Access:http://e-apem.org/upload/pdf/apem-2142134-067.pdf

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