Novel guanosine diphosphate-mannose pyrophosphorylase A variant in an individual with achalasia, alacrima, and intellectual disability-Reference-Cited by-同舟云学术

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Novel guanosine diphosphate-mannose pyrophosphorylase A variant in an individual with achalasia, alacrima, and intellectual disability

Published:2022-11-03 Issue:1 Volume:32 Page:18-20
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Sager Gunes,Türkyilmaz Ayberk,Hanedar Yasemin Dilek,Günbey Hediye Pinar,Akin Yasemin

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

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

Reference9 articles.

1. A novel GMPPA mutation in two adult sisters with achalasia, alacrima, short stature, dysmorphism, and intellectual disability.;Benítez;Mol Syndromol,2018

2. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.;Carss;Am J Hum Genet,2013

3. Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome.;Diaz;Am J Med Genet A,2020

4. GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.;Franzka;J Clin Invest,2021

5. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.;Gold;Am J Med Genet A,2017

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