Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome
Author:
Affiliation:
1. Rare Disease InstituteChildren's National Health System Washington District of Columbia
2. Division of General & Thoracic SurgeryChildren's National Health System Washington District of Columbia
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61476
Reference7 articles.
1. Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations
2. FAMILIAL GLUCOCORTICOID DEFICIENCY WITH ACHALASIA OF THE CARDIA AND DEFICIENT TEAR PRODUCTION
3. A Novel GMPPA Mutation in Two Adult Sisters with Achalasia, Alacrima, Short Stature, Dysmorphism, and Intellectual Disability
4. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction
5. Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction
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1. Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives;Journal of Rare Diseases;2022-12-07
2. Novel guanosine diphosphate-mannose pyrophosphorylase A variant in an individual with achalasia, alacrima, and intellectual disability;Clinical Dysmorphology;2022-11-03
3. Genetic pain loss disorders;Nature Reviews Disease Primers;2022-06-16
4. A rare cause of infantile achalasia: GMPPA ‐congenital disorder of glycosylation with two novel compound heterozygous variants;American Journal of Medical Genetics Part A;2022-06-04
5. Congenital alacrima;Orbit;2021-09-05
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