Prenatal onset GAPO syndrome with a novel ANTXR1 variant in an Indian child: Expansion of the phenotype & literature review-Reference-Cited by-同舟云学术

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Prenatal onset GAPO syndrome with a novel ANTXR1 variant in an Indian child: Expansion of the phenotype & literature review

Published:2024-04 Issue: Volume:68 Page:104929
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Balakrishnan Surya^ORCID,Goud Iravathy,Teegala Madhavi Latha

Publisher

Elsevier BV

Reference21 articles.

1. GAPO syndrome in seven new patients: identification of five novel ANTXR1 mutations including the first large intragenic deletion;Abdel-Hamid;Am. J. Med. Genet.,2019

2. GAPO syndrome with deafness: new feature or incidental finding?;Aggarwal;Clin. Dysmorphol.,2013

3. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome;Bayram;Am. J. Med. Genet.,2014

4. GAPO syndrome: a new syndromic cause of premature ovarian insufficiency;Benetti-Pinto;Climacteric,2016

5. Regulatory mechanisms of anthrax toxin receptor 1-dependent vascular and connective tissue homeostasis;Besschetnova;Matrix Boil.,2015

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