Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2-Reference-Cited by-同舟云学术

Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2

Published:2019-10 Issue:4 Volume:28 Page:211-214
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Robert Smigiel,Anna Rozensztrauch,Anna Walczak,Małgorzata Rydzanicz,Piotr Stawinski,Marta Berghausen-Mazur,Grażyna Kostrzewa,Malgorzata Sasiadek,Rafal Ploski

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference20 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. Et tilfaelde at total ‘pseudoanodonti’ I forbindelse med kranie deformitet, dvaergvaekst og ektodermal dysplasi.;Anderson;Odontol Tilster,1947

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

4. GAPO syndrome: four new patients with congenital glaucoma and myelinated retinal nerve fiber layer.;Bozkurt;Am J Med Genet A,2013

5. GAPO syndrome associated with craniofacial vascular malformation.;Castrillon-Oberndorfer;Am J Med Genet A,2010

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3. Two siblings with GAPO syndrome: a novel missense variant in ANTXR1;Clinical Dysmorphology;2022-08-26