KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant
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DOI: 10.1097/mcd.0000000000000373
Abstract: 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… read more here.
Keywords: phenotype; case; related skeletal; kiaa0753 related ... See more keywords