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Article

The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review.

Medicine - 1 Feb 2020

Cocciadiferro Dario, Agolini Emanuele, Digilio Maria Cristina, Sinibaldi Lorenzo, Castori Marco, Silvestri Evelina, Dotta Andrea, Dallapiccola Bruno, Novelli Antonio

Abstract excerpt

INTRODUCTION: KIAA0586 variants have been associated to short-rib thoracic dysplasia, an autosomal recessive skeletal ciliopathy characterized by a narrow thorax, short limbs, and radiological skeletal abnormalities. PATIENT CONCERNS: Patients 1 and 2 were two Roma Gypsy siblings presenting thoracic dysplasia and a combination of oral cavity anomalies. DIAGNOSIS: A custom NGS gene panel, including genes...

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Identifiers

PMID: 32080096
DOI: 10.1097/MD.0000000000019169
PMCID: PMC7034684

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Source receipt: pubmed, retrieved 7 Sept 2026.

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