A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency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 new intellectual disability syndrome caused by CTNNB1 haploinsufficiency

Authors:	Estelle Dubruc Audrey Putoux Audrey Labalme Christelle Rougeot Damien Sanlaville Patrick Edery

Affiliation:	1. Genetics Service, Hospices Civils de Lyon, H?pital Femme‐Mère‐Enfant, and Eastern Biology and Pathology Centre, Bron Cedex, France;2. Neuroscience Research Centre, Inserm U1028, UMR CNRS 5292, Claude Bernard University Lyon 1, Lyon, France;3. Neuropediatric Department, Hopital Femme‐Mère‐Enfant, Bron Cedex, France;4. Correspondence to:;5. Patrick Edery, Genetics Service, Hospices Civils de Lyon, H?pital Femme‐Mère‐Enfant, and Eastern Biology and Pathology Centre, Bron Cedex, France.;6. E‐mail:

Abstract:

Keywords:	CTNNB1 gene haploinsufficiency developmental delay mild dysmorphic features sparse fair hair postnatal microcephaly progressive ataxia progressive spasticity