Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1-Reference-Cited by-同舟云学术

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Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1

Published:2020-12-27 Issue:3 Volume:185 Page:916-922
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Walters Michelle E.¹,Lacassie Yves²^ORCID,Azamian Mahshid³,Franciskovich Rachel³,Zapata Gladys³,Hernandez Patricia P.³⁴,Liu Pengfei³⁴^ORCID,Campbell Ian M.⁵^ORCID,Bostwick Bret L.³,Lalani Seema R.³⁶^ORCID

Affiliation:

1. Division of Dermatology Harbor‐UCLA Medical Center Torrance California USA

2. Division of Genetics, Department of Pediatrics Louisiana State University Health Sciences Center School of Medicine, and Children's Hospital New Orleans Louisiana USA

3. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

4. Baylor Genetics Houston Texas USA

5. Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

6. Texas Children's Hospital Houston Texas USA

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62036

Reference31 articles.

1. A method and server for predicting damaging missense mutations

2. Alx4 and Msx2 play phenotypically similar and additive roles in skull vault differentiation

3. A Twist Code Determines the Onset of Osteoblast Differentiation

4. Twist1 homodimers enhance FGF responsiveness of the cranial sutures and promote suture closure

5. Clinical and Genetic Analysis of Patients with Saethre-Chotzen Syndrome

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1. Parietal Foramina;Smith's Recognizable Patterns of Human Deformation;2025

2. Transcriptomic Signatures of Single-Suture Craniosynostosis Phenotypes;International Journal of Molecular Sciences;2023-03-10

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