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Article

Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.

American journal of human genetics - 1 Jul 2002

Le Caignec C, Lefevre M, Schott J J, Chaventre A, Gayet M, Calais C, Moisan J P

Abstract excerpt

In the present study, we report a kindred with hearing loss, congenital heart defects, and posterior embryotoxon, segregating as autosomal dominant traits. Six of seven available affected patients manifested mild-to-severe combined hearing loss, predominantly affecting middle frequencies. Two pat...

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Heart Defects, Congenital

Share to Intercellular Signaling Peptides and Proteins

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Source

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Identifiers

PMID: 12022040
DOI: 10.1086/341327
PMCID: PMC384977

Genes

JAG1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12022040-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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