A maternal exon H splice-site variant leading to pseudohypoparathyroidism type 1B with broad methylation defects in GNAS-differentially methylated regions.

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Title: A maternal exon H splice-site variant leading to pseudohypoparathyroidism type 1B with broad methylation defects in GNAS-differentially methylated regions.
Authors: Urakawa T; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157- 8535, Japan.; Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki, 852-8102, Japan., Huang H; Center for Regenerative Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan., Nagai T; Department of Pediatrics, Tajimi City Hospital, 3-43 Maebata, Tajimi, 507-0042, Japan., Hattori A; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157- 8535, Japan., Kawasaki T; Center for Regenerative Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan., Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, 1‑20‑1 Handayama, Higashi‑ku, Hamamatsu, 431‑3192, Japan., Akutsu H; Center for Regenerative Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan., Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157- 8535, Japan., Kagami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157- 8535, Japan. kagami-ms@ncchd.go.jp.
Source: Clinical epigenetics [Clin Epigenetics] 2026 Mar 16; Vol. 18 (1). Date of Electronic Publication: 2026 Mar 16.
Publication Type: Journal Article
Journal Info: Publisher: Biomed Central Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083 (Electronic) Linking ISSN: 18687075 NLM ISO Abbreviation: Clin Epigenetics Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1868-7083
DOI:10.1186/s13148-026-02107-y