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Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy.

Clinical genetics - 1 Jun 2021

Thakur Seema, Gupta Rachna, Bansal Deepak, Singh Chanchal, Agarwal Divya, Saxena Kamal Kant

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PMID: 33694158
DOI: 10.1111/cge.13953

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Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy.PMID 33694158Read ↗

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Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.Semantic proximity Read ↗

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DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.Semantic proximity Read ↗

[Genetic analysis of a fetus with Short-rib thoracic dysplasia 8 with or without polydactyly due to variants of DYNC2I1 gene].Semantic proximity Read ↗

DYNC2H1 splicing variants causing severe prenatal short-rib polydactyly syndrome and postnatal orofaciodigital syndrome.Semantic proximity Read ↗

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

[Family analysis of a child with Short-rib polydactyly syndrome type III due to variant of DYNC2H1 gene].Semantic proximity Read ↗

Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene.Semantic proximity Read ↗

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