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| http://dx.doi.org/10.4103/0019-5049.115588 | DOI Listing |
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A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
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Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
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