Novel large deletion involving EVC and EVC2 in Ellis-van Creveld syndrome.
Journal
Human genome variation
ISSN: 2054-345X
Titre abrégé: Hum Genome Var
Pays: England
ID NLM: 101652445
Informations de publication
Date de publication:
17 May 2022
17 May 2022
Historique:
received:
03
02
2022
accepted:
17
03
2022
revised:
17
03
2022
entrez:
17
5
2022
pubmed:
18
5
2022
medline:
18
5
2022
Statut:
epublish
Résumé
Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia that is characterized by thoracic hypoplasia, polydactyly, oral abnormalities, and congenital heart disease. It is caused by pathogenic variants in the EVC or EVC2 genes. We report a case of a newborn with a compound heterozygous variant comprising NM_147127.5: c.1991dup:[p.Lys665Glufs*10] in the EVC2 gene and a novel large deletion involving exon 1 in EVC and exons 1-7 in EVC2.
Identifiants
pubmed: 35581188
doi: 10.1038/s41439-022-00190-0
pii: 10.1038/s41439-022-00190-0
pmc: PMC9114401
doi:
Types de publication
Journal Article
Langues
eng
Pagination
15Informations de copyright
© 2022. The Author(s).
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