A rare cause of infantile achalasia: <scp> <i>GMPPA</i> ‐congenital </scp> disorder of glycosylation with two novel compound heterozygous variants-Reference-Cited by-同舟云学术

A rare cause of infantile achalasia: GMPPA ‐congenital disorder of glycosylation with two novel compound heterozygous variants

Author:

Geiculescu Irina¹^ORCID,Dranove Jason²,Cosper Graham³,Edmondson Andrew C.⁴,Morava‐Kozicz Eva⁵,Carter Lauren B.⁶

Affiliation:

1. Department of Pediatrics Levine Children's Hospital Charlotte North Carolina USA

2. Division of Pediatric Gastroenterology, Hepatology, and Nutrition Levine Children's Hospital Charlotte North Carolina USA

3. Pediatric Surgical Associates, Levine Children's Hospital Charlotte North Carolina USA

4. Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

5. Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA

6. Department of Pediatrics, Division of Medical Genetics Levine Children's Hospital, Atrium Health Charlotte North Carolina USA

Funder

National Center for Advancing Translational Sciences

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

Reference19 articles.

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