Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants

Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants

Objective: This study aimed to report on 15 Japanese patients with acrodysostosis and pseudohypoparathyroidism (PHP) and analyze them using the newly proposed classification of the EuroPHP network to determine whether this classification system is suitable for Japanese patients. Design: We divided...

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Bibliographic Details
Main Authors: Nobuo Matsuura, Tadashi Kaname, Norio Niikawa, Yoshihide Ooyama, Osamu Shinohara, Yukifumi Yokota, Shigeyuki Ohtsu, Noriyuki Takubo, Kazuteru Kitsuda, Keiko Shibayama, Fumio Takada, Akemi Koike, Hitomi Sano, Yoshiya Ito, Kenji Ishikura
Format: Article
Language:English
Published: Bioscientifica 2022-09-01
Series:Endocrine Connections
Subjects:
pde4d gene defects
prkar1a gene defects
acrodysostosis
gnas gene
pseudohypoparathyroidism
Online Access:https://ec.bioscientifica.com/view/journals/ec/11/10/EC-22-0151.xml

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https://ec.bioscientifica.com/view/journals/ec/11/10/EC-22-0151.xml

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