Abbasi, Ansar A

Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly. [electronic resource] - American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics Dec 2017 - 839-845 p. digital

Publication Type: Journal Article

1552-485X

10.1002/ajmg.b.32602 doi


Adolescent
Adult
Carrier Proteins--genetics
Child
Child, Preschool
Codon, Nonsense
Exome
Female
Homozygote
Humans
Intellectual Disability--complications
Intercellular Signaling Peptides and Proteins
Male
Microcephaly--complications
Pedigree
Prognosis
Speech Disorders--complications
Syndrome
Young Adult