Novel compound heterozygous mutations inDYNC2H1in a patient with severe short-rib polydactyly syndrome type III phenotype-Reference-Cited by-同舟云学术

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Novel compound heterozygous mutations inDYNC2H1in a patient with severe short-rib polydactyly syndrome type III phenotype

Published:2015-07-26 Issue:3 Volume:55 Page:155-157
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:Congenital Anomalies

Author:

Okamoto Toshio¹,Nagaya Ken¹,Kawata Yumi¹,Asai Hiroko¹,Tsuchida Etsushi¹,Nohara Fumikatsu¹,Okajima Kazuki¹,Azuma Hiroshi¹

Affiliation:

1. Department of Pediatrics; Asahikawa Medical University; Hokkaido Japan

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health

Reference18 articles.

1. Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families;Baujat;J Med Genet,2013

2. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy;Beales;Nature Genet,2007

3. Crystal structure of the dynein motor domain;Carter;Science,2011

4. Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum;Cavalcanti;J Med Genet,2011

5. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III;Dagoneau;Am J Hum Genet,2009

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families;Frontiers in Genetics;2023-03-17

2. Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis;BMC Medical Genomics;2022-03-12

3. High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses;Journal of Human Genetics;2021-04-20

4. Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals;Human Genome Variation;2021-01-15

5. Identification of novel compound heterozygous mutations of the DYNC2H1 gene in a fetus with short-rib thoracic dysplasia 3 with or without polydactyly;Intractable & Rare Diseases Research;2020-05-31

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