(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B - Urakawa, Tatsuki; Sano, Shinichiro; Kawashima, Sayaka; Nakamura, Akie; Shima, Hirohito; Ohta, Motoki; Yamada, Yuki; Nishida, Ai; Narusawa, Hiromune; Ohtsu, Yoshiaki; Matsubara, Keiko; Dateki, Sumito; et al. (European journal of endocrinology, 2023)
Keywords: Autosomal dominant inheritance; Copy number; CpG islands; Diagnosis; DNA methylation; Intellectual disabilities; Neurodevelopmental disorders; Osteodystrophy; Parathyroid hormone; Pseudohypoparathyroidism; Seizures; Tetany; GNAS; AHO; parathyroid hormone; methylation; pseudohypoparathyroidism type 1B