<scp> <i>BHLHA9</i> </scp> homozygous duplication in a consanguineous family: A challenge for genetic counseling-Reference-Cited by-同舟云学术

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BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling

Published:2022-12-24 Issue:4 Volume:191 Page:923-929
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:

Chouery Eliane¹^ORCID,Tahan Elio²,Karam Rim²,Pharoun Jana²,Mehawej Cybel¹^ORCID,Megarbane Andre¹³^ORCID

Affiliation:

1. Department of Human Genetics, Gilbert and Rose‐Marie Chagoury School of Medicine Lebanese American University Byblos Lebanon

2. Gilbert and Rose‐Marie Chagoury School of Medicine Lebanese American University Byblos Lebanon

3. Institut Jérôme Lejeune Paris France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63094

Reference28 articles.

1. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

2. Split hand/foot malformation with long-bone deficiency andBHLHA9duplication: A prenatal diagnosis report

3. Classifications of split hand foot malformation (SHFM) should include transverse deficiencies: Why Maisels was correct

4. Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation

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