Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.
Zollino, Marcella
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
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmedgenet-2015-103184 doi
Abnormalities, Multiple--genetics
Adolescent
Adult
Child
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 17--genetics
Craniofacial Abnormalities--genetics
Female
Fetal Growth Retardation--genetics
Genetic Association Studies
Haploinsufficiency
Humans
Infant
Language Development Disorders--genetics
Male
Nuclear Proteins--genetics
Seizures--genetics
Severity of Illness Index
Smith-Magenis Syndrome--genetics
Syndrome
Young Adult
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
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmedgenet-2015-103184 doi
Abnormalities, Multiple--genetics
Adolescent
Adult
Child
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 17--genetics
Craniofacial Abnormalities--genetics
Female
Fetal Growth Retardation--genetics
Genetic Association Studies
Haploinsufficiency
Humans
Infant
Language Development Disorders--genetics
Male
Nuclear Proteins--genetics
Seizures--genetics
Severity of Illness Index
Smith-Magenis Syndrome--genetics
Syndrome
Young Adult