Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B)
Takatani, Rieko, Minagawa, Masanori, Molinaro, Angelo, Reyes, Monica, Kinoshita, Kaori, Takatani, Tomozumi, Kazukawa, Itsuro, Nagatsuma, Misako, Kashimada, Kenichi, Sato, Kenichi, Matsushita, Kazuyuki, Nomura, Fumio, Shimojo, Naoki, Jüppner, Harald
Published in Bone (New York, N.Y.) (01.10.2015)
Published in Bone (New York, N.Y.) (01.10.2015)
Get full text
Journal Article
A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus
Nagatsuma, Misako, Takasawa, Kei, Yamauchi, Takeru, Nakagawa, Ryuichi, Mizuno, Tomoko, Tanaka, Eriko, Yamamoto, Kouhei, Uemura, Noriko, Kashimada, Kenichi, Morio, Tomohiro
Published in Journal of human genetics (01.02.2019)
Published in Journal of human genetics (01.02.2019)
Get full text
Journal Article