title: First clinical report of an infant with microcephaly and CASC5 mutations.
authors.affiliation: Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
authors.forename: Yuri A
authors.initials: YA
authors.lastname: Zarate
authors.affiliation: Molecular Genetic Pathology, Arkansas Children's Hospital, Little Rock, Arkansas.
authors.forename: Julie A
authors.initials: JA
authors.lastname: Kaylor
authors.affiliation: Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
authors.forename: Katherine
authors.initials: K
authors.lastname: Bosanko
authors.affiliation: Fulgent Diagnostics, Temple City, California.
authors.forename: Sarah
authors.initials: S
authors.lastname: Lau
authors.affiliation: Fulgent Diagnostics, Temple City, California.
authors.forename: Jose
authors.initials: J
authors.lastname: Vargas
authors.affiliation: Fulgent Diagnostics, Temple City, California.
authors.forename: Hanlin
authors.initials: H
authors.lastname: Gao
mesh_terms: D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D009154:Mutation
chemical_list: C472643:Knl1 protein, human; D008869:Microtubule-Associated Proteins
keywords: CASC5; next generation sequencing; primary autosomal recessive microcephaly