TY  - GEN
AU  - Beunders,Gea
AU  - de Munnik,Sonja A
AU  - Van der Aa,Nathalie
AU  - Ceulemans,Berten
AU  - Voorhoeve,Els
AU  - Groffen,Alexander J
AU  - Nillesen,Willy M
AU  - Meijers-Heijboer,Elizabeth J
AU  - Frank Kooy,R
AU  - Yntema,Helger G
AU  - Sistermans,Erik A
TI  - Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome
SN  - 1476-5438
PY  - 2016///0203
KW  - Cytoskeletal Proteins
KW  - Exons
KW  - Frameshift Mutation
KW  - Gene Deletion
KW  - Humans
KW  - Intellectual Disability
KW  - diagnosis
KW  - Male
KW  - Microcephaly
KW  - genetics
KW  - Phenotype
KW  - Polymorphism, Genetic
KW  - Proteins
KW  - Syndrome
KW  - Transcription Factors
KW  - Young Adult
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1038/ejhg.2014.173
ER  -