Identification of novel compound heterozygous mutations of the
DYNC2H1
compound heterozygous mutations
short-rib thoracic dysplasia 3 with or without polydactyly
Journal
Intractable & rare diseases research
ISSN: 2186-3644
Titre abrégé: Intractable Rare Dis Res
Pays: Japan
ID NLM: 101586847
Informations de publication
Date de publication:
May 2020
May 2020
Historique:
entrez:
5
6
2020
pubmed:
5
6
2020
medline:
5
6
2020
Statut:
ppublish
Résumé
A prenatal sonograph revealed a 26-week-old fetus with short limbs and a narrow chest in a 23-year-old woman with a history of fetal skeletal dysplasia. A single nucleotide polymorphism-based chromosomal microarray (CMA) indicated a normal karyotype, and no chromosomal segments with abnormal copy numbers were noted in the fetus. Whole exome sequencing identified compound heterozygous mutations in the
Identifiants
pubmed: 32494556
doi: 10.5582/irdr.2020.01031
pmc: PMC7263985
doi:
Types de publication
Journal Article
Langues
eng
Pagination
95-98Informations de copyright
2020, International Research and Cooperation Association for Bio & Socio - Sciences Advancement.
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