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Article

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2007

Vuorela Pia, Ala-Mello Sirpa, Saloranta Carola, Penttinen Maila, Pöyhönen Minna, Huoponen Kirsi, Borozdin Wiktor, Bausch Birke, Botzenhart Elke M, Wilhelm Christian, Kääriäinen Helena, Kohlhase Jürgen

Abstract excerpt

PURPOSE: Autosomal dominant CHARGE syndrome (OMIM no. 214800) is characterized by choanal atresia or cleft lip or palate, ocular colobomas, cardiovascular malformations, retardation of growth, ear anomalies, and deafness, and is caused by mutations in the CHD7 gene. Here, we describe the outcome...

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Source

Identifiers

PMID: 18073582
DOI: 10.1097/gim.0b013e318156e68e

Genes

CHD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18073582-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.PMID 18073582Read ↗

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