The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome
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DOI: 10.1097/md.0000000000019169
Abstract: Abstract 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… read more here.
Keywords: rib; short rib; oral facial; rib polydactyly ... See more keywords
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short‐rib polydactyly type I, Saldino–Noonan type
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DOI: 10.1111/cge.12947
Abstract: The short‐rib polydactyly syndromes (SRPS) are autosomal recessively inherited, genetically heterogeneous skeletal ciliopathies. SRPS phenotypes were historically categorized as types I–IV, with type I first delineated by Saldino and Noonan in 1972. Characteristic findings among… read more here.
Keywords: rib polydactyly; short rib; type; saldino noonan ... See more keywords