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Article

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.

Clinical genetics - 1 Aug 2017

Badiner N, Taylor S P, Forlenza K, Lachman R S, Bamshad M, Nickerson D, Cohn D H, Krakow D

Abstract excerpt

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 all forms of SRP include short horizontal ribs, short limbs and polydactyly. The SRP type I phenotype is characterized by a very small...

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PMID: 27925158
DOI: 10.1111/cge.12947
PMCID: PMC5538819

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.PMID 27925158Read ↗

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