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Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report.

BMC neurology - 15 Feb 2020

Picher-Martel Vincent, Labrie Yvan, Rivest Serge, Lace Baiba, Chrestian Nicolas

Abstract excerpt

BACKGROUND: Primary microcephaly is defined as reduced occipital-frontal circumference noticeable before 36 weeks of gestation. Large amount of insults might lead to microcephaly including infections, hypoxia and genetic mutations. More than 16 genes are described in autosomal recessive primary microcephaly. However, the cause of microcephaly remains unclear in many cases after extensive investigations and...

Topics

Canada
Child, Preschool
Genetic Testing
Homozygote
Humans
Infant
Male
Microcephaly
Mutation
Nervous System Malformations
Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32061250
DOI: 10.1186/s12883-020-01643-1
PMCID: PMC7023720

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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