A case of congenital central hypoventilation syndrome in a three‐generation family with non‐polyalanine repeat PHOX2B mutation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 case of congenital central hypoventilation syndrome in a three‐generation family with non‐polyalanine repeat PHOX2B mutation

Authors:	K.J. Low MRCPCH MBChB BSc A.R. Turnbull MRCPCH MBChB BSc K.R. Smith MSc T.N. Hilliard FRCPCH MD MBChB MA L.J. Hole MRCPCH MBCHB BMEDSCI D.J. Meecham Jones FRCP MBCHB M.M. Williams BSc FRCPath A. Donaldson FRCP MBCHB BSC

Affiliation:	1. Department of Clinical Genetics, UHBristol NHS Trust, St Michaels Hospital, , Bristol, UK;2. National Grid Trainee in Paediatric Respiratory Medicine, Department of Paediatric Respiratory Medicine, Bristol Royal Hospital for Children, , Bristol, UK;3. Bristol Genetics Laboratory, Department of Pathology Sciences, Southmead Hospital, , Bristol, UK;4. Department of Paediatric Respiratory Medicine, Bristol Royal Hospital for Children, , Bristol, UK;5. Department of Paediatrics, Gloucester Royal Hospital, , Gloucester, UK;6. Department of Respiratory Medicine, Gloucester Royal Hospital, , Gloucester, UK;7. Department of Clinical Genetics, UHBristol NHS Trust, , Bristol, UK

Abstract:

Keywords:	CCHS (Congenital Central Hypoventilation Syndrome) PHOX2B neuroblastoma Hirschsprung's disease