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Epilepsy and outcome in FOXG1-related disorders.
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
A developmental and genetic classification for malformations of cortical development: update 2012.
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.
New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.
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New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.
New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Hum Genet. 1984; 67(2):193-200.
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PubMed
subject areas
Abnormalities, Multiple
Brain
Child, Preschool
Chromosome Aberrations
Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, 16-18
Facial Expression
Female
Genes, Recessive
Growth Disorders
Humans
Infant
Karyotyping
Male
Phenotype
Prenatal Diagnosis
Syndrome
Translocation, Genetic
authors with profiles
William B. Dobyns