Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7-Reference-Cited by-同舟云学术

Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7

Published:2021-09-24 Issue:1 Volume:188 Page:350-356
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Minatogawa Mari¹²,Miyake Noriko³⁴^ORCID,Tsukahara Yoshinori⁵,Tanabe Yuko⁶,Uchiyama Takamichi⁶,Matsumoto Naomichi³,Kosho Tomoki¹²⁷⁸^ORCID

Affiliation:

1. Department of Medical Genetics Shinshu University School of Medicine Matsumoto Japan

2. Center for Medical Genetics Shinshu University Hospital Matsumoto Japan

3. Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan

4. Department of Human Genetics Research Institute, National Center for Global Health and Medicine Tokyo Japan

5. Department of Radiology Shinshu University School of Medicine Matsumoto Japan

6. Department of Pediatrics Kansai Medical University Hirakata Japan

7. Division of Clinical Sequencing Shinshu University School of Medicine Matsumoto Japan

8. Research Center for Supports to Advanced Science Shinshu University Matsumoto Japan

Funder

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62516

Reference20 articles.

1. A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype;AbuBakr F.;Cold Spring Harbor Molecular Case Studies,2020

2. Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7

3. Prevalence and architecture of de novo mutations in developmental disorders

4. Congenital heart disease, deafness, andskeletal malformations: A new syndrome?

5. Carpal Coalitions and Metacarpal Synostoses

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1. A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant;Human Genome Variation;2024-02-22

2. TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature;Annual Review of Genomics and Human Genetics;2023-08-25

3. The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations;Human Mutation;2022-07-29