An unusual phenotype of X‐linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene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

An unusual phenotype of X‐linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene

Authors:	Verity L. Hartill Carolyn Tysoe Nigel Manning Angus Dobbie Saikat Santra John Walter Richard Caswell Janet Koster Hans Waterham Emma Hobson

Affiliation:	1. Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK;2. Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK;3. Department of Clinical Chemistry, Sheffield Children's Hospital, Sheffield, UK;4. Department of Metabolic Medicine, Birmingham Children's Hospital, Birmingham, UK;5. Willink Biochemical Genetics Unit, Manchester Academic Health Science Centre, University of Manchester, UK;6. Institute for Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK;7. Laboratory of Genetic Metabolic Diseases, Academic Medical Centre, University of Amsterdam, The Netherlands

Abstract:

Keywords:	Conradi– Hunermann– Happle syndrome Conradi– Hunermann syndrome chondrodysplasia punctata, X‐linked dominant emopamil binding protein, human X‐linked recessive inheritance sterol biosynthesis