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CHROMOSOME 1p32-p31 DELETION SYNDROME

National Institutes of Health

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14 relations
Agenesis of corpus callosumArnold-Chiari Malformation, Type ICongenital hypoplasia of kidneyCutis marmorata

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2016
2016
CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes
BackgroundNon-progressive cerebellar ataxia with mental retardation (CANPMR, OMIM 614756) and chromosome 1p32-p31 deletion… 
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