A novel
Journal
Human genome variation
ISSN: 2054-345X
Titre abrégé: Hum Genome Var
Pays: England
ID NLM: 101652445
Informations de publication
Date de publication:
2019
2019
Historique:
received:
15
09
2018
revised:
06
12
2018
accepted:
09
12
2018
entrez:
23
2
2019
pubmed:
23
2
2019
medline:
23
2
2019
Statut:
epublish
Résumé
X-linked hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. Here, we present a case of XLH associated with a novel mutation in a phosphate-regulating gene with homologies to endopeptidases on the X chromosome (
Identifiants
pubmed: 30792871
doi: 10.1038/s41439-019-0040-3
pii: 40
pmc: PMC6374454
doi:
Types de publication
Case Reports
Langues
eng
Pagination
9Déclaration de conflit d'intérêts
The authors declare that they have no conflict of interest.
Références
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