MED12-Related Disease in a Chinese Girl: Clinical Characteristics and Underlying Mechanism-Reference-Cited by-同舟云学术

MED12-Related Disease in a Chinese Girl: Clinical Characteristics and Underlying Mechanism

Published:2020-02-27 Issue: Volume:11 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Wang Chao,Lin Longlong,Xue Yan,Wang Yilin,Liu Zhao,Ou Zicheng,Wu Shengnan,Lan Xiaoping,Zhang Yuanfeng,Yuan Fang,Luo Xiaona,Wang Chunmei,Xi Jiaming,Sun Xiaomin,Chen Yucai

Funder

National Natural Science Foundation of China

Shanghai Science and Technology Development Foundation

Shanghai Hospital Development Center

Key Disciplines Construction Project of Shanghai Municipal

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference30 articles.

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3. Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G > T (p.Glu1974His)];Bouazzi;Clin. Case Rep.,2015

4. The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders;Charzewska;Clin. Genet.,2018

5. FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing;Clark;Genet. Med.,2009

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1. Macrocephaly and Finger Changes: A Narrative Review;International Journal of Molecular Sciences;2024-05-20

2. Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X‐linked Ohdo syndrome;American Journal of Medical Genetics Part A;2024-04-24

3. Two heterozygous mutations in the calcium/ calmodulin‐dependent serine protein kinase gene ( CASK ) in cases with developmental disorders;Molecular Genetics & Genomic Medicine;2022-09-28

4. Identification of two aberrant transcripts by RNA sequencing for a novel variant c.3354 + 5 G > A of MED12 in a Chinese girl with non-syndromic intellectual disability;Clinica Chimica Acta;2022-07

5. MED12 ‐related Hardikar syndrome: Two additional cases and novel phenotypic features;American Journal of Medical Genetics Part A;2022-04-06