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A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants.
Geiculescu, Irina; Dranove, Jason; Cosper, Graham; Edmondson, Andrew C; Morava-Kozicz, Eva; Carter, Lauren B.
Affiliation
  • Geiculescu I; Department of Pediatrics, Levine Children's Hospital, Charlotte, North Carolina, USA.
  • Dranove J; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Levine Children's Hospital, Charlotte, North Carolina, USA.
  • Cosper G; Pediatric Surgical Associates, Levine Children's Hospital, Charlotte, North Carolina, USA.
  • Edmondson AC; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Morava-Kozicz E; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.
  • Carter LB; Department of Pediatrics, Division of Medical Genetics, Levine Children's Hospital, Atrium Health, Charlotte, North Carolina, USA.
Am J Med Genet A ; 188(8): 2438-2442, 2022 08.
Article in En | MEDLINE | ID: mdl-35665995
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Esophageal Achalasia / Eye Diseases, Hereditary / Adrenal Insufficiency / Congenital Disorders of Glycosylation Type of study: Diagnostic_studies Limits: Child / Female / Humans / Infant Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Esophageal Achalasia / Eye Diseases, Hereditary / Adrenal Insufficiency / Congenital Disorders of Glycosylation Type of study: Diagnostic_studies Limits: Child / Female / Humans / Infant Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: United States