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Last Updated: 03/06/2025
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Found 205 publications
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.
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
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
Journal: Journal of medical genetics
Published: January 20, 2022
Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis.
Journal: BMC medical genomics
Published: August 09, 2021
The Role of Sonic Hedgehog in Human Holoprosencephaly and Short-Rib Polydactyly Syndromes.
Journal: International journal of molecular sciences
Published: July 31, 2021
Last Updated: 03/06/2025