16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems.

Gerundino, Francesca

16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems. [electronic resource] - European journal of medical genetics - 649-53 p. digital

Publication Type: Case Reports; Journal Article

1878-0849

10.1016/j.ejmg.2014.09.009 doi


Abnormalities, Multiple--diagnosis
Adenosine Triphosphatases--genetics
Child, Preschool
Chromosome Deletion
Chromosome Disorders--diagnosis
Chromosomes, Human, Pair 16--genetics
Developmental Disabilities--diagnosis
Female
Humans
Language Development Disorders--diagnosis