Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference10 articles.
1. Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay;Andersson;Am J Med Genet,2002
2. Chromosome 1p32-p31 deletion syndrome: Prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction
3. 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;Koehler;Eur J Pediatr,2010
4. NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects;Lu;PLoS Genet,2007
5. Deletion (1)(p32.2–p32.3) detected by array-CGH in a patient with developmental delay/mental retardation, dysmorphic features and low cholesterol: a new microdeletion syndrome?;Mulatinho;Am J Med Genet A,2008
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1. Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion;Molecular Syndromology;2024
2. NFIA haploinsufficiency: case series and literature review;Frontiers in Pediatrics;2023-10-17
3. Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature;Genes;2022-11-30
4. A 1p31.3 deletion encompassing the nuclear factor 1A gene presenting as possible temporal lobe epilepsy in association with schizoaffective disorder;Neurocase;2022-07-04
5. Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles;Italian Journal of Pediatrics;2022-03-04
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