A novel <scp> <i>MAP3K7</i> </scp> mutation in a child with cardiospondylocarpofacial syndrome and orofacial clefting-Reference-Cited by-同舟云学术

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A novel MAP3K7 mutation in a child with cardiospondylocarpofacial syndrome and orofacial clefting

Published:2022-11 Issue:2 Volume:103 Page:254-255
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Shepherd William Billal¹,Colaiacovo Samantha²,Campbell Craig¹³,Saleh Maha¹²

Affiliation:

1. Schulich School of Medicine and Dentistry Western University London Ontario Canada

2. Division of Clinical Genetics, Department of Pediatrics London Health Sciences Center London Ontario Canada

3. Division of Neurology, Department of Pediatrics London Health Sciences Center London Ontario Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14253

Reference5 articles.

1. Heterozygous Mutations in MAP3K7 , Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome

2. A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype

3. A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder

4. Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

5. Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH

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