TY  - GEN
AU  - Zollino,Marcella
AU  - Marangi,Giuseppe
AU  - Ponzi,Emanuela
AU  - Orteschi,Daniela
AU  - Ricciardi,Stefania
AU  - Lattante,Serena
AU  - Murdolo,Marina
AU  - Battaglia,Domenica
AU  - Contaldo,Ilaria
AU  - Mercuri,Eugenio
AU  - Stefanini,Maria Chiara
AU  - Caumes,Roseline
AU  - Edery,Patrick
AU  - Rossi,Massimiliano
AU  - Piccione,Maria
AU  - Corsello,Giovanni
AU  - Della Monica,Matteo
AU  - Scarano,Francesca
AU  - Priolo,Manuela
AU  - Gentile,Mattia
AU  - Zampino,Giuseppe
AU  - Vijzelaar,Raymon
AU  - Abdulrahman,Omar
AU  - Rauch,Anita
AU  - Oneda,Beatrice
AU  - Deardorff,Matthew A
AU  - Saitta,Sulagna C
AU  - Falk,Marni J
AU  - Dubbs,Holly
AU  - Zackai,Elaine
TI  - Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients
SN  - 1468-6244
PY  - 2016///0912
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - Chromosome Deletion
KW  - Chromosomes, Human, Pair 17
KW  - Craniofacial Abnormalities
KW  - Female
KW  - Fetal Growth Retardation
KW  - Genetic Association Studies
KW  - Haploinsufficiency
KW  - Humans
KW  - Infant
KW  - Language Development Disorders
KW  - Male
KW  - Nuclear Proteins
KW  - Seizures
KW  - Severity of Illness Index
KW  - Smith-Magenis Syndrome
KW  - Syndrome
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmedgenet-2015-103184
ER  -