Schneider, Anouck

Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder. [electronic resource] - American journal of medical genetics. Part A Dec 2015 - 3031-7 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1552-4833

10.1002/ajmg.a.37350 doi


Base Sequence
Child
Chromosome Painting--methods
Chromosomes, Human, Pair 3
Chromosomes, Human, Pair 7
Cytoskeletal Proteins
Female
Humans
Intellectual Disability--genetics
Male
Molecular Sequence Data
Neurodevelopmental Disorders--genetics
Pregnancy
Proteins--genetics
Receptor, EphA6--genetics
Transcription Factors
Translocation, Genetic