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

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 micr...

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Detalles Bibliográficos
Autores principales:	Picher-Martel, Vincent, Labrie, Yvan, Rivest, Serge, Lace, Baiba, Chrestian, Nicolas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7023720/ https://www.ncbi.nlm.nih.gov/pubmed/32061250 http://dx.doi.org/10.1186/s12883-020-01643-1

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