Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly. [electronic resource]
Producer: 20180216Description: 839-845 p. digitalISSN:- 1552-485X
- 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
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Publication Type: Journal Article
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