Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery

The first description of patients with combined pituitary hormone deficiencies (CPHD) caused by PROP1 mutations was made 20 years ago. Here we updated the clinical and genetic characteristics of patients with PROP1 mutations and summarized the phenotypes of 14 patients with 7 different pathogenic PR...

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Detalles Bibliográficos
Autores principales: Correa, Fernanda A., Nakaguma, Marilena, Madeira, João L. O., Nishi, Mirian Y., Abrão, Milena G., Jorge, Alexander A. L., Carvalho, Luciani R., Arnhold, Ivo J. P., Mendonça, Berenice B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Endocrinologia e Metabologia 2019
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10522137/
https://www.ncbi.nlm.nih.gov/pubmed/31090814
http://dx.doi.org/10.20945/2359-3997000000139

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10522137/
https://www.ncbi.nlm.nih.gov/pubmed/31090814
http://dx.doi.org/10.20945/2359-3997000000139

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