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

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 ...

Source: BMC Neurology - February 15, 2020 Category: Neurology Authors: Vincent Picher-Martel, Yvan Labrie, Serge Rivest, Baiba Lace and Nicolas Chrestian Tags: Case report Source Type: research