TY - GEN AU - Kleefstra,Tjitske AU - Brunner,Han G AU - Amiel,Jeanne AU - Oudakker,Astrid R AU - Nillesen,Willy M AU - Magee,Alex AU - Geneviève,David AU - Cormier-Daire,Valérie AU - van Esch,Hilde AU - Fryns,Jean-Pierre AU - Hamel,Ben C J AU - Sistermans,Erik A AU - de Vries,Bert B A AU - van Bokhoven,Hans TI - Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome SN - 0002-9297 PY - 2006///0914 KW - Abnormalities, Multiple KW - genetics KW - Adolescent KW - Adult KW - Child KW - Child, Preschool KW - Chromosome Deletion KW - Chromosomes, Human, Pair 9 KW - Female KW - Histone-Lysine N-Methyltransferase KW - Humans KW - Infant KW - Infant, Newborn KW - Male KW - Methyltransferases KW - Molecular Sequence Data KW - Mutation KW - Pedigree KW - Syndrome N1 - Publication Type: Journal Article; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1086/505693 ER -