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Article

Santos syndrome is caused by mutation in the WNT7A gene.

Journal of human genetics - 1 Dec 2017

Alves Leandro U, Santos Silvana, Musso Camila M, Ezquina Suzana Am, Opitz John M, Kok Fernando, Otto Paulo A, Mingroni-Netto Regina C

Abstract excerpt

We have recently described a family with a condition (Santos syndrome (SS; MIM 613005)) characterized by fibular agenesis/hypoplasia, hypoplastic femora and grossly malformed/deformed clubfeet with severe oligodactyly, ungual hypoplasia/anonychia, sometimes associated with mild brachydactyly and occasional pre-axial polydactyly. Autosomal dominant inheritance with incomplete penetrance was suggested, but...

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PMID: 28855715
DOI: 10.1038/jhg.2017.86

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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