TY  - JOUR
AU  - Breen, Michael S.
AU  - Moreno Ruiz, María del Carmen
AU  - Parellada Redondo, María José
AU  - De Rubeis, Silvia
PY  - 2020
DO  - 10.1016/j.ajhg.2020.07.003
SN  - 0002-9297
UR  - https://hdl.handle.net/20.500.14352/130725
T2  - American Journal of Human Genetics
AB  - Helsmoortel-Van der Aa syndrome (HVDAS) is a neurodevelopmental condition associated with intellectual disability/developmental delay, autism spectrum disorder, and multiple medical comorbidities. HVDAS is caused by mutations in activity-dependent...
LA  - eng
M2  - 555
PB  - Elsevier
KW  - ADNP
KW  - Helsmoortel-Van der Aa syndrome
KW  - Autism Spectrum Disorder
KW  - Biomarkers
KW  - Neurodevelopmental disorders
TI  - Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype
TY  - journal article
VL  - 107
ER  -