A girl with developmental delay,ataxia, cranial nerve palsies,severe respiratory problems in infancy—Expanding NDST1 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

A girl with developmental delay,ataxia, cranial nerve palsies,severe respiratory problems in infancy—Expanding NDST1 syndrome

Authors:	Linlea Armstrong Maja Tarailo‐Graovac Graham Sinclair Kimberly I. Seath Wyeth W. Wasserman Colin J. Ross Clara D. M. van Karnebeek

Affiliation:	1. Provincial Medical Genetics Program, B.C. Women's Hospital & Health Centre, Vancouver, Canada;2. Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada;3. BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada;4. Treatable Intellectual Disability Endeavour in British Columbia, Vancouver, Canada;5. Department of Medical Genetics, B.C. Women's Hospital & Health Centre, Vancouver, Canada;6. Center for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada;7. Department of Pediatrics, University of British Columbia, Vancouver, Canada;8. Department of Pediatrics, Academic Medical Centre, Amsterdam, The Netherlands

Abstract:

Keywords:	whole exome sequencing intellectual disability autosomal recessive pharyngeal arch neural crest respiratory insufficiency