Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Spanish Network for Imprinting Disorders"'
Autor:
Yerai Vado, Arrate Pereda, Africa Manero-Azua, Spanish Network for Imprinting Disorders, Guiomar Perez de Nanclares
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2023)
ObjectiveiPPSD2 (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 ha
Externí odkaz:
https://doaj.org/article/01c9535ab7d2486b9b681d5ff8946025
Autor:
Arrate Pereda, Intza Garin, Spanish Network for Imprinting Disorders, Guiomar Perez de Nanclares
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-10 (2018)
Abstract Background Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright’s hereditary osteodystrophy (AHO) phenotype,
Externí odkaz:
https://doaj.org/article/c802f3dea99b452580a8c32522bab5d2
Autor:
Pereda, Arrate, Garin, Intza, Spanish Network for Imprinting Disorders, Perez de Nanclares, Guiomar
Publikováno v:
BMC Medical Genetics; 3/2/2018, Vol. 19 Issue 1, p1-1, 1p