Condition: Jeune thoracic dystrophy


rs137853027 in DYNC2H1 gene and Jeune thoracic dystrophy PMID 19442771 2009 DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

PMID 23339108 2013 Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.

PMID 23456818 2013 Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

PMID 29068549 2018 Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

PMID 27925158 2017 Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.

PMID 22499340 2012 NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

rs1555531363 in KIAA0753 gene and Jeune thoracic dystrophy PMID 29138412 2017 Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.

rs1553508246 in TTC21B gene and Jeune thoracic dystrophy PMID 21258341 2011 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

rs140511594 in TTC21B;TTC21B-AS1 gene and Jeune thoracic dystrophy PMID 21258341 2011 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

PMID 24876116 2014 A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.