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Article

SNP genotyping to screen for a common deletion in CHARGE syndrome.

BMC medical genetics - 14 Feb 2005

Lalani Seema R, Safiullah Arsalan M, Fernbach Susan D, Phillips Michael, Bacino Carlos A, Molinari Laura M, Glass Nancy L, Towbin Jeffrey A, Craigen William J, Belmont John W

Abstract excerpt

BACKGROUND: CHARGE syndrome is a complex of birth defects including coloboma, choanal atresia, ear malformations and deafness, cardiac defects, and growth delay. We have previously hypothesized that CHARGE syndrome could be caused by unidentified genomic microdeletion, but no such deletion was detected using short tandem repeat (STR) markers spaced an average of 5 cM apart. Recently, microdeletion at 8q12 locus...

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Source

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Identifiers

PMID: 15710038
DOI: 10.1186/1471-2350-6-8
PMCID: PMC550653

Genes

CHD7

Provenance

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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Semantic proximity does not establish scientific evidence.

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SNP genotyping to screen for a common deletion in CHARGE syndrome.PMID 15710038Read ↗

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.Semantic proximity Read ↗

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