Stankiewicz, Paweł <br/><br/>
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.  [electronic resource] 

 -  American journal of human genetics  Oct 2017 
 - 503-515 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2017.08.014  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Adolescent<br/>Animals<br/>Antigens, Nuclear--genetics<br/>CRISPR-Cas Systems<br/>Cell Proliferation<br/>Cells, Cultured<br/>Child<br/>Child, Preschool<br/>Chromatin Assembly and Disassembly<br/>Cohort Studies<br/>Craniofacial Abnormalities--genetics<br/>Female<br/>Gene Editing<br/>Gene Expression Regulation, Developmental<br/>Haploinsufficiency--genetics<br/>Humans<br/>Language Development Disorders--genetics<br/>Larva--genetics<br/>Male<br/>Microcephaly--genetics<br/>Nerve Tissue Proteins--antagonists & inhibitors<br/>Neurons--metabolism<br/>Phenotype<br/>Transcription Factors--antagonists & inhibitors<br/>Zebrafish--genetics