Severe early-onset overgrowth in a case of pseudohypoparathyroidism type 1b, caused by STX16 deletion.
作者信息
Vos Niels, Menke Leonie A, Mooij Christiaan F, van den Akker Erica L T, Alders Mariëlle, van Haelst Mieke M
机构信息
Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.
Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.
出版信息
Am J Med Genet A. 2023 May;191(5):1476-1478. doi: 10.1002/ajmg.a.63154. Epub 2023 Feb 20.
PMID:36807968
Abstract
摘要
Zotero 插件