Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management.
ALPL gene
Alkaline phosphatase
Dominant inheritance
Family history
Genetic counseling
Hypophosphatasia
Recessive inheritance
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Dec 2020
Dec 2020
Historique:
received:
18
06
2020
revised:
05
10
2020
accepted:
06
10
2020
entrez:
26
10
2020
pubmed:
27
10
2020
medline:
27
10
2020
Statut:
epublish
Résumé
Hypophosphatasia (HPP) is an inherited metabolic condition caused by pathogenic mutations in the
Identifiants
pubmed: 33101980
doi: 10.1016/j.ymgmr.2020.100661
pii: S2214-4269(20)30107-5
pmc: PMC7578550
doi:
Types de publication
Case Reports
Langues
eng
Pagination
100661Informations de copyright
© 2020 The Authors.
Références
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