TY  - JOUR
AU  - Benítez-Burraco, Antonio
AU  - Barcos-Martínez, Montserrat
AU  - Espejo-Portero, Isabel
AU  - Jiménez-Romero, Salud
PY  - 2017
DO  - 10.1159/000468192
SN  - 1661-8769
UR  - https://hdl.handle.net/10668/25047
T2  - Molecular syndromology
AB  - The 15q11.2 BP1-BP2 region is found duplicated or deleted in people with cognitive, language, and behavioral impairment. We report on a family (a father and 3 male twin siblings) that presents with a duplication of the 15q11.2 BP1-BP2 region and a...
LA  - en
KW  - Cognitive delay
KW  - Copy number variations
KW  - Language impairment
KW  - Microduplication 15q11.2 BP1–BP2
KW  - Variable penetrance
TI  - Variable Penetrance of the 15q11.2 BP1-BP2 Microduplication in a Family with Cognitive and Language Impairment.
TY  - research article
VL  - 8
ER  -