Diagnosis of a case with mental retardation due to novel compound heterozygous variants of TRAPPC9 gene.

07:00 EST 10th November 2019 | BioPortfolio

Summary of "Diagnosis of a case with mental retardation due to novel compound heterozygous variants of TRAPPC9 gene."

To explore the genetic basis for a boy with mental retardation.


Journal Details

This article was published in the following journal.

Name: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
ISSN: 1003-9406
Pages: 1115-1119


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Medical and Biotech [MESH] Definitions

A class of genetic disorders resulting in mental retardation that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS).

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A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95)

A condition caused by autosomal recessive gene mutations leading to hypogenesis or absence (agenesis) or of CORPUS CALLOSUM, the band of nerve fibers joining the two CEREBRAL HEMISPHERES. Clinical features include MENTAL RETARDATION; CRANIOFACIAL ABNORMALITIES; digital malformations, and growth retardation.

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