Article

Novel Compound Heterozygous Variants of DYNC2H1 Causing The Short Rib-Polydactyly Syndrome, Type III With Situs Inversus Totalis in a Fetus

2021-08-27

Abstract excerpt

<h4>Background: </h4> Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) is an autosomal recessive disorder. SRTD3 presents clinically with the narrow thorax, short ribs, shortened tubular bones, and acetabular roof abnormalities. Clinical signs of SRTD3 vary among individuals. Mutations of DYNC2H1 were reported to cause SRTD3. Methods We performed a detailed clinical prenatal sonographic characte...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: cdee4614-d3ac-593a-9560-822a735b09a9
DOI: 10.21203/rs.3.rs-794259/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Novel Compound Heterozygous Variants of DYNC2H1 Causing The Short Rib-Polydactyly Syndrome, Type III With Situs Inversus Totalis in a FetusDOI 10.21203/rs.3.rs-794259/v1Read

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.Semantic proximity Read

[Clinical characteristics and prenatal diagnosis of a fetus with Short-rib thoracic dysplasia syndrome due to variants of DYNC2H1 gene].Semantic proximity Read

Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.Semantic proximity Read

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

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

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

Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios.Semantic proximity Read

Compound Heterozygous Splicing Variants In KIAA0586 Cause Fetal Short-Rib Thoracic Dysplasia And Cerebellar Malformation: The Use of Whole Exome Sequencing In Prenatal DiagnosisSemantic proximity Read

Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing.Semantic proximity Read

Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII.Semantic proximity Read

Investigation of the genetic and clinical features of laterality disorders in prenatal diagnosis: discovery of a novel compound heterozygous mutation in the DNAH11 gene.Semantic proximity Read

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