Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2

OBJECTIVE: iPPSD2 (which includes PHP1A and PPHP/POH) is a rare inherited autosomal dominant endocrine disorder caused by inactivating GNAS pathogenic variants. A high percentage of de novo cases has been suggested. In rare cases, parental mosaicism has been described, but its real frequency is unkn...

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Detalles Bibliográficos
Autores principales: Vado, Yerai, Pereda, Arrate, Manero-Azua, Africa, Perez de Nanclares, Guiomar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9846528/
https://www.ncbi.nlm.nih.gov/pubmed/36686455
http://dx.doi.org/10.3389/fendo.2022.1055431

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9846528/
https://www.ncbi.nlm.nih.gov/pubmed/36686455
http://dx.doi.org/10.3389/fendo.2022.1055431

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