Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A

Authors: Fabio Sippelli, Silvana Briuglia, Chiara Ferraloro, Anna Paola Capra, Emanuele Agolini, Tiziana Abbate, Giorgia Pepe, Tommaso Aversa, Malgorzata Wasniewska, Domenico Corica

Source: BMC Pediatrics, Vol 24, Iss 1, Pp 1-8 (2024)

Subject Terms: PHP1A, Albright hereditary osteodystrophy, PTH resistance, GNAS mutation, Genotype–phenotype variability, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2431

Access URL: https://doaj.org/article/b3347a76c4a2470bb7a3e070a6b215ba

Report of two siblings with APECED in Serbia: is there a founder effect of c.769C>T AIRE genotype?

Authors: Alessandra Fierabracci, Mariafrancesca Lanzillotta, Ivana Vorgučin, Alessia Palma, Dragan Katanić, Corrado Betterle

Source: Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-8 (2021)

Subject Terms: Autoimmune polyglandular syndrome type 1, APECED, AIRE, Serbian population, Genotype-phenotype variability, Autoantibodies, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1824-7288

Access URL: https://doaj.org/article/4afa2b6cdc9548baa6fb2fcbc35f7065

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