2021
DOI: 10.1097/mcd.0000000000000373
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KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant

Abstract: KIAA0753-related skeletal ciliopathy is a recently described recessive disorder causing skeletal dysplasia and overlapping features of certain ciliopathies; Joubert, Jeune and Oro-facialdigital 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 ventriculomegaly), cone-rod dystrophy, nystagmus, mild conductive hearing loss and recurrent chest infections secon… Show more

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Cited by 2 publications
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