Wessel, Karen

17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report. [electronic resource] - BMC medical genetics 10 2017 - 119 p. digital

Publication Type: Case Reports; Journal Article

1471-2350

10.1186/s12881-017-0479-3 doi


Ataxia--diagnosis
Child
Chromosome Duplication
Chromosomes, Human, Pair 17--chemistry
Developmental Disabilities--diagnosis
Electroencephalography
Gene Dosage
Gene Expression
Humans
Learning Disabilities--diagnosis
Male
Phenotype
Proteins--genetics
Psychomotor Disorders--diagnosis
Seizures--diagnosis
Self-Injurious Behavior--diagnosis
Speech Disorders--diagnosis