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Article

RBPJ mutations identified in two families affected by Adams-Oliver syndrome.

American journal of human genetics - 10 Aug 2012

Hassed Susan J, Wiley Graham B, Wang Shaofeng, Lee Ji-Yun, Li Shibo, Xu Weihong, Zhao Zhizhuang J, Mulvihill John J, Robertson James, Warner James, Gaffney Patrick M

Abstract excerpt

Through exome resequencing, we identified two unique mutations in recombination signal binding protein for immunoglobulin kappa J (RBPJ) in two independent families affected by Adams-Oliver syndrome (AOS), a rare multiple-malformation disorder consisting primarily of aplasia cutis congenita of th...

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Share to Basic Helix-Loop-Helix Transcription Factors
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Share to Ectodermal Dysplasia

Share to Electrophoretic Mobility Shift Assay

Share to Immunoglobulin J Recombination Signal Sequence-Binding Protein

Share to Limb Deformities, Congenital

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Source

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Identifiers

PMID: 22883147
DOI: 10.1016/j.ajhg.2012.07.005
PMCID: PMC3415535

Genes

RBPJ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22883147-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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