A Distinct Variant of Pseudohypoparathyroidism (PHP) First Characterized Some 41 Years Ago Is Caused by the 3‐kb STX16 Deletion

In 1980, Farfel and colleagues (NEJM, 1980;303:237–42) provided first evidence for two distinct variants of pseudohypoparathyroidism (PHP) that present with hypocalcemia and impaired parathyroid hormone (PTH)‐stimulated urinary cAMP and phosphate excretion, either in the presence or absence of Albri...

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Detalles Bibliográficos
Autores principales: Kiuchi, Zentaro, Reyes, Monica, Brickman, Arnold S, Jüppner, Harald
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8260810/
https://www.ncbi.nlm.nih.gov/pubmed/34258502
http://dx.doi.org/10.1002/jbm4.10505

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8260810/
https://www.ncbi.nlm.nih.gov/pubmed/34258502
http://dx.doi.org/10.1002/jbm4.10505

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