Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.
Bramswig, Nuria C
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. [electronic resource] - Human genetics 02 2017 - 179-192 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1432-1203
10.1007/s00439-016-1743-x doi
Adolescent
Autistic Disorder--diagnosis
Base Sequence
Carrier Proteins--genetics
Child
Cohort Studies
Female
Genetic Variation
Genome, Human
Humans
Intellectual Disability--diagnosis
Karyotyping
Male
Mutation, Missense
Phenotype
Proteolysis
RNA Splicing
Sequence Analysis, DNA
Ubiquitin-Protein Ligases--genetics
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. [electronic resource] - Human genetics 02 2017 - 179-192 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1432-1203
10.1007/s00439-016-1743-x doi
Adolescent
Autistic Disorder--diagnosis
Base Sequence
Carrier Proteins--genetics
Child
Cohort Studies
Female
Genetic Variation
Genome, Human
Humans
Intellectual Disability--diagnosis
Karyotyping
Male
Mutation, Missense
Phenotype
Proteolysis
RNA Splicing
Sequence Analysis, DNA
Ubiquitin-Protein Ligases--genetics