Associated Papers
Genetic variations in the DYNC2H1 gene causing SRTD3 (short-rib thoracic dysplasia 3 with or without polydactyly).
Chen W et al.
Frontiers in Genetics, 2023
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 2022
36418292 (PubMed )
Supplement: 41467_2022_34689_MOESM4_ESM.zip › Supplementary_Data › Supplementary_Data_5.xlsx › Sheet1
Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios.
Deng L et al.
Birth Defects Research, 2018
Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus.
Chen CP et al.
Taiwanese Journal of Obstetrics & Gynecology, 2018
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
Zhang W et al.
Human Mutation, 2018
Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing.
Chen LS et al.
Genetics and Molecular Research : Gmr, 2016
Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III.
Mei L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
Schmidts M et al.
Journal of Medical Genetics, 2013
Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene.
Chen CP et al.
Taiwanese Journal of Obstetrics & Gynecology, 2012
Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene.
Chen CP et al.
Taiwanese Journal of Obstetrics & Gynecology, 2012
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.
Merrill AE et al.
American Journal of Human Genetics, 2009
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