Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
Beunders, Gea
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome. [electronic resource] - European journal of human genetics : EJHG Jun 2015 - 803-7 p. digital
Publication Type: Journal Article
1476-5438
10.1038/ejhg.2014.173 doi
Cytoskeletal Proteins
Exons
Frameshift Mutation
Gene Deletion
Humans
Intellectual Disability--diagnosis
Male
Microcephaly--genetics
Phenotype
Polymorphism, Genetic
Proteins--genetics
Syndrome
Transcription Factors
Young Adult
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome. [electronic resource] - European journal of human genetics : EJHG Jun 2015 - 803-7 p. digital
Publication Type: Journal Article
1476-5438
10.1038/ejhg.2014.173 doi
Cytoskeletal Proteins
Exons
Frameshift Mutation
Gene Deletion
Humans
Intellectual Disability--diagnosis
Male
Microcephaly--genetics
Phenotype
Polymorphism, Genetic
Proteins--genetics
Syndrome
Transcription Factors
Young Adult