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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 thora...

Topics

Cell Cycle Proteins
Ciliopathies
Humans
Infant, Newborn
Italy
Male
Orofaciodigital Syndromes
Phenotype
Roma
Short Rib-Polydactyly Syndrome
Siblings

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-32080096-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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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.PMID 32080096Read ↗

Compound Heterozygous Splicing Variants In KIAA0586 Cause Fetal Short-Rib Thoracic Dysplasia And Cerebellar Malformation: The Use of Whole Exome Sequencing In Prenatal DiagnosisSemantic proximity Read ↗

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