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Article

Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.

American journal of medical genetics. Part A - 1 Jun 2017

Wigby Kristen, Twigg Stephen R F, Broderick Ryan, Davenport Katherine P, Wilkie Andrew O M, Bickler Stephen W, Jones Marilyn C

Abstract excerpt

Curry-Jones syndrome (CJS) is a pattern of malformation that includes craniosynostosis, pre-axial polysyndactyly, agenesis of the corpus callosum, cutaneous and gastrointestinal abnormalities. A recurrent, mosaic mutation of SMO (c.1234 C>T; p.Leu412Phe) causes CJS. This report describes the gastrointestinal and surgical findings in a baby with CJS who presented with abdominal obstruction and reviews the spectrum...

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Source

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Identifiers

PMID: 28386950
DOI: 10.1002/ajmg.a.38232
PMCID: PMC5933242

Genes

SMO

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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