Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly.
Scala
Iris
I
Department of Pediatrics, University Federico II, Naples, Italy.
Titomanlio
Luigi
L
Del Giudice
Ennio
E
Passemard
Sandrine
S
Figliuolo
Chiara
C
Annunziata
Patrizia
P
Granese
Barbara
B
Scarpato
Elena
E
Verloes
Alain
A
Andria
Generoso
G
D018797:Cell Cycle Proteins; D002648:Child; D015331:Cohort Studies; D003241:Consanguinity; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*
D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; C460645:MCPH1 protein, human; D009419:Nerve Tissue Proteins