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Brain Malformations
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.
Brain Malformations
Comprehensive Brain Malformation Panel
Goldberg Schprintzen Megacolon Syndrome Testing (KIAA1279)
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum Testing (SLC12A6)
Holoprosencephaly Panel
Hydrocephalus Panel
Intragenic deletions and duplications of the LIS1 and DCX genes - a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.
LIS1-Associated Lissencephaly/Subcortical Band Heterotopia.
Macrocephaly Panel
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