Zollino, Marcella <br/><br/>
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.  [electronic resource] 

 -  Journal of medical genetics  Dec 2015 
 - 804-14 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmedgenet-2015-103184  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Adolescent<br/>Adult<br/>Child<br/>Child, Preschool<br/>Chromosome Deletion<br/>Chromosomes, Human, Pair 17--genetics<br/>Craniofacial Abnormalities--genetics<br/>Female<br/>Fetal Growth Retardation--genetics<br/>Genetic Association Studies<br/>Haploinsufficiency<br/>Humans<br/>Infant<br/>Language Development Disorders--genetics<br/>Male<br/>Nuclear Proteins--genetics<br/>Seizures--genetics<br/>Severity of Illness Index<br/>Smith-Magenis Syndrome--genetics<br/>Syndrome<br/>Young Adult