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Article

A novel APC mutation defines a second locus for Cenani-Lenz syndrome.

Journal of medical genetics - 1 May 2015

Patel Nisha, Faqeih Eissa, Anazi Shams, Alfawareh Mohammad, Wakil Salma M, Colak Dilek, Alkuraya Fowzan S

Abstract excerpt

BACKGROUND: Cenani-Lenz syndrome (CLS) is an autosomal recessive condition characterised by a unique pattern of syndactyly, and variable penetrance of renal agenesis and facial dysmorphism. LRP4 mutations were identified in most, but not all patients with this syndrome, suggesting the presence of at least one additional locus. MATERIALS AND METHODS: Clinical characterisation of a new CLS family followed by...

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Source

Identifiers

PMID: 25676610
DOI: 10.1136/jmedgenet-2014-102850

Genes

APC
LRP4

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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