An Orthodenticle Homeobox 2 (OTX2) Mutation in a Patient With Combined Pituitary Hormone Deficiency, Pituitary Malformation, and Retinitis Pigmentosa.

combined pituitary hormone deficiency hypopituitarism neurodevelopment disorder otx2 mutation retinitis pigmentosa

Journal

Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737

Informations de publication

Date de publication:
Dec 2023
Historique:
accepted: 19 12 2023
medline: 22 1 2024
pubmed: 22 1 2024
entrez: 22 1 2024
Statut: epublish

Résumé

Heterozygous mutations of

Identifiants

pubmed: 38249203
doi: 10.7759/cureus.50819
pmc: PMC10797213
doi:

Types de publication

Case Reports

Langues

eng

Pagination

e50819

Informations de copyright

Copyright © 2023, Araújo et al.

Déclaration de conflit d'intérêts

The authors have declared that no competing interests exist.

Auteurs

Cátia Araújo (C)

Endocrinology, Diabetes and Metabolism, Centro Hospitalar e Universitário de Coimbra, Coimbra, PRT.

Carla Baptista (C)

Endocrinology, Diabetes and Metabolism, Centro Hospitalar e Universitário de Coimbra, Coimbra, PRT.

Isabel Paiva (I)

Endocrinology, Diabetes and Metabolism, Centro Hospitalar e Universitário de Coimbra, Coimbra, PRT.

Classifications MeSH