GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion-Reference-Cited by-同舟云学术

GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion

Published:2018-12-21 Issue:2 Volume:179 Page:237-242
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet Part A

Author:

Abdel‐Hamid Mohamed S.¹^ORCID,Ismail Samira²,Zaki Maha S.²,Abdel‐Salam Ghada M. H.²^ORCID,Otaify Ghada A.²,Issa Mahmoud Y.²,Abdel‐Kader Mohamed³,Girgis Marian⁴,Aboul‐Ezz Eman³,Mazen Inas²,Aglan Mona S.²,Temtamy Samia A.²

Affiliation:

1. Medical Molecular Genetics Department, Human Genetics and Genome Research DivisionNational Research Centre Cairo Egypt

2. Clinical Genetics Department, Human Genetics and Genome Research DivisionNational Research Centre Cairo Egypt

3. Department of Dental Basic Science, Dental and Oral Research DivisionNational Research Centre Cairo Egypt

4. Pediatric Department, Faculty of MedicineCairo University Cairo Egypt

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61021

Reference24 articles.

1. GAPO syndrome with deafness

2. Whole exome sequencing identifies three novel mutations inANTXR1in families with GAPO syndrome

3. GAPO syndrome: a new syndromic cause of premature ovarian insufficiency

4. GAPO syndrome with the novel features of pulmonary hypertension, ankyloglossia, and prognathism

5. GAPO syndrome: Report of three affected brothers

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