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A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum

7 Sept 2009

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Share to Fetal and Pediatric Neurological Disorders
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PMID: 19763616
DOI: 10.1007/s00431-009-1057-2

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A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosumPMID 19763616Read ↗

An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.Semantic proximity Read ↗

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.Semantic proximity Read ↗

The expanding spectrum of NFIB-associated phenotypes in a diverse patient population-A report of two new patients.Semantic proximity Read ↗

Clinical and molecular characterization of a patient with a 2q31.2‐32.3 deletion identified by array‐CGHSemantic proximity Read ↗

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.Semantic proximity Read ↗

Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature reviewSemantic proximity Read ↗

Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features.Semantic proximity Read ↗

Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies.Semantic proximity Read ↗

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.Semantic proximity Read ↗

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.Semantic proximity Read ↗

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.Semantic proximity Read ↗

High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.Semantic proximity Read ↗

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