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Article

KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant.

Clinical dysmorphology - 1 Jul 2021

Sabir Ataf H, Sheikh Jameela, Gowda Vasantha, Wallis Colin, Singham Surendra, Durve Dipalee, Cocca Alessandra, Holder-Espinasse Muriel, Irving Melita

Abstract excerpt

KIAA0753-related skeletal ciliopathy is a recently described recessive disorder causing skeletal dysplasia and overlapping features of certain ciliopathies; Joubert, Jeune and Oro-facial-digital syndromes. We describe a ninth case that expands the phenotype; a 10-year-old girl with rhizomelic short stature (-5.6 SD), macrocephaly, developmental delay, CNS anomalies (thin corpus callosum, bilateral...

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PMID: 34016807
DOI: 10.1097/MCD.0000000000000373

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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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KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant.PMID 34016807Read ↗

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