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Article

Novel noncanonical splice site variant causes mild CHD7-related disorder with variable intrafamilial expressivity.

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

Boschann Felix, Kosmehl Sabine, Bloching Marc, Grünhagen Johannes, Hildebrand Gabriele, Horn Denise, Lyutenski Stefan

Abstract excerpt

The clinical diagnosis criteria for CHARGE syndrome have been revised several times in the last 25 years. Variable expressivity and reduced penetrance are known, particularly in mild and familial cases. Therefore, it has been proposed to include the detection of a pathogenic CHD7 variant as a major diagnostic criterion. However, intronic variants not located at the canonical splice site are still underrepresented...

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Identifiers

PMID: 36708132
DOI: 10.1002/ajmg.a.63122

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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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Novel noncanonical splice site variant causes mild CHD7-related disorder with variable intrafamilial expressivity.PMID 36708132Read ↗

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