Bohring–Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Bohring–Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome

Authors:	Silvana Beatriz Dangiolo Ashley Wilson Vaidehi Jobanputra Kwame Anyane‐Yeboa

Affiliation:	1. Department of Pediatrics, Columbia University Medical Center, New York;2. Department of Pathology, Columbia University Medical Center, New York

Abstract:

Keywords:	Bohring– Opitz syndrome atypical cystic fibrosis ASXL1 chronic pancreatitis CFTR