Two siblings with GAPO syndrome: a novel missense variant in ANTXR1
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health
Reference12 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 A,2019
2. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.;Bayram;Am J Med Genet A,2014
3. GAPO syndrome: a new syndromic cause of premature ovarian insufficiency.;Benetti-Pinto;Climacteric,2016
4. Regulatory mechanisms of anthrax toxin receptor 1-dependent vascular and connective tissue homeostasis.;Besschetnova;Matrix Biol,2015
5. A novel mutation at ANTXR1 in an Indian patient with growth retardation-alopecia-pseudoanodontia-optic atrophy syndrome.;Chattopadhyay;Oral Surg Oral Med Oral Pathol Oral Radiol,2017
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