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

Nobuo Matsuura Tadashi KanameNorio NiikawaYoshihide OoyamaOsamu ShinoharaYukifumi YokotaShigeyuki OhtsuNoriyuki TakuboKazuteru KitsudaKeiko ShibayamaFumio TakadaAkemi KoikeHitomi SanoYoshiya ItoKenji Ishikura

Published in: Endocrine connections (2022)

The newly proposed classification is suitable for Japanese patients; however, heterogeneities still existed within groups B and C.

Keyphrases

deep learning
machine learning
copy number
gene expression