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Article

Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.

European journal of medical genetics - 1 Aug 2017

Afzal Muhammad, Zaman Qamar, Kornak Uwe, Mundlos Stefan, Malik Sajid, Flöttmann Ricarda

Abstract excerpt

Cenani-Lenz syndactyly syndrome (CLSS; MIM-212780) is a rare autosomal recessive limb malformation characterized by complete osseous fusion of all fingers and toes, disorganization of phalangeal elements and severe shortening of the radius and ulna. It is occasionally associated with renal hypoplasia, oro-facial defects, scoliosis of the thoracic spine, hearing loss, and genital anomalies. Here we describe a...

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Source

Identifiers

PMID: 28559208
DOI: 10.1016/j.ejmg.2017.05.004

Genes

LRP4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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