TY  - GEN
AU  - Boutry-Kryza,Nadia
AU  - Labalme,Audrey
AU  - Till,Marianne
AU  - Schluth-Bolard,Caroline
AU  - Langue,Jacques
AU  - Turleau,Catherine
AU  - Edery,Patrick
AU  - Sanlaville,Damien
TI  - An 800  kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p
SN  - 1552-4833
PY  - 2012///0720
KW  - Body Dysmorphic Disorders
KW  - diagnosis
KW  - Child
KW  - Chromosome Breakpoints
KW  - Chromosome Deletion
KW  - Chromosome Disorders
KW  - Chromosomes, Human, Pair 17
KW  - genetics
KW  - Comparative Genomic Hybridization
KW  - Haploinsufficiency
KW  - Hearing Loss
KW  - Humans
KW  - Intellectual Disability
KW  - Mediator Complex
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.34222
ER  -