Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

Micale, Lucia

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. [electronic resource] - Orphanet journal of rare diseases Jun 2011 - 38 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1750-1172

10.1186/1750-1172-6-38 doi


Abnormalities, Multiple--diagnosis
Child
Child, Preschool
Codon, Nonsense--genetics
Cohort Studies
DNA Mutational Analysis
DNA-Binding Proteins--genetics
Developmental Disabilities--genetics
Face--abnormalities
Female
Frameshift Mutation--genetics
Genetic Association Studies
Hematologic Diseases--genetics
Humans
Intellectual Disability--genetics
Male
Neoplasm Proteins--genetics
Phenotype
Sequence Analysis, DNA
Vestibular Diseases--genetics