A female patient with X‐linked Ohdo syndrome of the Maat‐Kievit‐Brunner phenotype caused by a novel variant of MED12-Reference-Cited by-同舟云学术

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A female patient with X‐linked Ohdo syndrome of the Maat‐Kievit‐Brunner phenotype caused by a novel variant of MED12

Published:2019-07-29 Issue:3 Volume:60 Page:91-93
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:Congenit Anom

Author:

Murakami Hiroaki¹^ORCID,Enomoto Yumi²^ORCID,Tsurusaki Yoshinori²^ORCID,Sugio Yoshitsugu³,Kurosawa Kenji¹^ORCID

Affiliation:

1. Division of Medical GeneticsKanagawa Children's Medical Center Yokohama Japan

2. Clinical Research InstituteKanagawa Children's Medical Center Yokohama Japan

3. Department of PediatricsTsudumigaura Medical Center for Children with Disabilities Yamaguchi Japan

Funder

Japan Society for the Promotion of Science

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cga.12350

Reference7 articles.

1. Mutations in MED12 Cause X-Linked Ohdo Syndrome

2. MED12related disorders

3. Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation

4. Nonsyndromic X‐linked intellectual deficiency in three brothers with a novel MED 12 missense mutation [c.5922G>T (p.Glu1974His)]

5. A novelMED12mutation: Evidence for a fourth phenotype

Cited by 17 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. First nonsense variant of MED12 gene in a female with complete Maat-Kievit-Brunner phenotype of Ohdo syndrome: A case report;Gene Reports;2024-09

2. Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan;Frontiers in Neurology;2023-05-12

3. XLID syndrome gene Med12 promotes Ig isotype switching through chromatin modification and enhancer RNA regulation;Science Advances;2022-11-25

4. Extensive blaschkoid hypopigmentation in a girl with MED12 ‐related disorder;Pediatric Dermatology;2022-08-26

5. 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

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