Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype.
作者信息
Salian Smrithi, Nampoothiri Sheela, Shukla Anju, Girisha Katta M
机构信息
Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, India.
出版信息
Congenit Anom (Kyoto). 2019 Jan;59(1):26-27. doi: 10.1111/cga.12285. Epub 2018 May 16.
PMID:29704261
Abstract
摘要
Zotero 插件