Kleefstra, Tjitske

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. [electronic resource] - American journal of human genetics Aug 2006 - 370-7 p. digital

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

0002-9297

10.1086/505693 doi


Abnormalities, Multiple--genetics
Adolescent
Adult
Child
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 9
Female
Histone-Lysine N-Methyltransferase
Humans
Infant
Infant, Newborn
Male
Methyltransferases--genetics
Molecular Sequence Data
Mutation
Pedigree
Syndrome