A maternal exon H splice-site variant leading to pseudohypoparathyroidism type 1B with broad methylation defects in GNAS-differentially methylated regions
Tatsuki Urakawa(National Center For Child Health and Development), Masayo Kagami(National Center For Child Health and Development), Tomoyuki Kawasaki(National Center For Child Health and Development), Hirotomo Saitsu(Hamamatsu University), Haipeng Huang(National Center For Child Health and Development), Maki Fukami(National Center For Child Health and Development), Atsushi Hattori(National Center For Child Health and Development), Hidenori Akutsu(National Center For Child Health and Development), Takuhito Nagai(Gifu Prefectural Tajimi Hospital)
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