Short Rib-Polydactyly Syndrome Type 1 Latest Advances

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: April 26, 2023

RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report.

Journal: Molecular genetics & genomic medicine

Published: January 07, 2023

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.

Journal: Cold Spring Harbor molecular case studies

Published: October 21, 2022

Whole exome sequencing, clinical exome or targeted gene panels: what to choose for suspected lethal skeletal dysplasia (short rib thoracic dysplasia type IV).

Journal: BMJ case reports

Published: September 19, 2022

Short Rib-Polydactyly Syndrome Type 1 Latest Advances

Find the Latest Research About Short Rib-Polydactyly Syndrome Type 1

Clinical characteristics and prenatal diagnosis of a fetus with Short-rib thoracic dysplasia syndrome due to variants of DYNC2H1 gene

Clinical characteristics and prenatal diagnosis of a fetus with Short-rib thoracic dysplasia syndrome due to variants of DYNC2H1 gene

Clinical analysis of a patient of Short rib-polydactyly syndrome type 6 with long term misdiagnosis

Clinical analysis of a patient of Short rib-polydactyly syndrome type 6 with long term misdiagnosis

Expanding the genetic spectrum of short rib polydactyly syndrome: Novel DYNC2H1 variants and functional insights.

Expanding the genetic spectrum of short rib polydactyly syndrome: Novel DYNC2H1 variants and functional insights.

A novel NEK1 variant disturbs the interaction between the C-terminal fragment of NEK1 and the VDAC1 channel, causing lethal short-rib polydactyly syndrome.

A novel NEK1 variant disturbs the interaction between the C-terminal fragment of NEK1 and the VDAC1 channel, causing lethal short-rib polydactyly syndrome.

A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.

A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.

Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes.

Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes.

Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis.

Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis.

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

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

Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an "ultrasound first" approach.

Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an "ultrasound first" approach.

RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report.

RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report.

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.

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.

Whole exome sequencing, clinical exome or targeted gene panels: what to choose for suspected lethal skeletal dysplasia (short rib thoracic dysplasia type IV).

Whole exome sequencing, clinical exome or targeted gene panels: what to choose for suspected lethal skeletal dysplasia (short rib thoracic dysplasia type IV).