Multi‐locus pathogenic variation identified in a patient with craniosynostosis-Reference-Cited by-同舟云学术

Multi‐locus pathogenic variation identified in a patient with craniosynostosis

Published:2023-12-21 Issue: Volume: Page:
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:

Yoon Jihoon G.¹²^ORCID,Yu Jung Woo²,Shim Kyu Won³^ORCID,Kim Yong Oock⁴^ORCID,Lee Min Goo²^ORCID

Affiliation:

1. Department of Genomic Medicine Seoul National University Hospital Seoul Republic of Korea

2. Department of Pharmacology Yonsei University College of Medicine Seoul Republic of Korea

3. Department of Pediatric Neurosurgery, Craniofacial Reforming and Reconstruction Clinic Yonsei University College of Medicine Seoul Republic of Korea

4. Department of Plastic and Reconstructive Surgery Institute for Human Tissue Restoration, Yonsei University College of Medicine Seoul Republic of Korea

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63521

Reference13 articles.

1. SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

2. PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents

3. Recurrent agnathia-otocephaly caused by DNA replication slippage inPRRX1

4. Phenotypic expansion illuminates multilocus pathogenic variation

5. Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

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