Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal
STX16
GNAS
infantile obesity
pseudohypoparathyroidism type 1B
Journal
Journal of pediatric endocrinology & metabolism : JPEM
ISSN: 2191-0251
Titre abrégé: J Pediatr Endocrinol Metab
Pays: Germany
ID NLM: 9508900
Informations de publication
Date de publication:
14 Dec 2023
14 Dec 2023
Historique:
received:
31
05
2023
accepted:
15
11
2023
medline:
14
12
2023
pubmed:
14
12
2023
entrez:
14
12
2023
Statut:
aheadofprint
Résumé
Pseudohypoparathyroidism (PHP1B) is most commonly caused by epigenetic defects resulting in loss of methylation at the GNAS locus, although deletions of We report three siblings with autosomal dominant PHP1B caused by a deletion in PHP1B from a
Identifiants
pubmed: 38095637
pii: jpem-2023-0249
doi: 10.1515/jpem-2023-0249
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2023 Walter de Gruyter GmbH, Berlin/Boston.
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