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Article

Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature.

American journal of medical genetics. Part A - 1 Feb 2023

Alghaith Fahad A, Arts Heleen H, Plourde Francois J, Boswall Andrew, Gulati Partima, McNeely P Daniel, Acott Philip D, Wong Kenny K, Dyack Sarah

Abstract excerpt

Congenital heart defect (CHD) is a birth defect that affects the structure of the heart. Although CHD is often multifactorial, it can also be inherited as part of a Mendelian disorder such as in congenital heart defect and ectodermal dysplasia (CHDED). This disorder is caused by de novo variants in PRKD1. Here, we describe a patient with a novel de novo variant of PRKD1 with phenotypic features consistent with...

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PMID: 36308391
DOI: 10.1002/ajmg.a.63023

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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