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

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

Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?

Journal: European journal of medical genetics

Published: August 31, 2022

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.

Journal: European journal of human genetics : EJHG

Published: August 19, 2022

Family analysis of a child with Short-rib polydactyly syndrome type III due to variant of DYNC2H1 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: August 05, 2022

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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

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.

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).

Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?

Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.

Family analysis of a child with Short-rib polydactyly syndrome type III due to variant of DYNC2H1 gene

Family analysis of a child with Short-rib polydactyly syndrome type III due to variant of DYNC2H1 gene