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

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

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http://www.wikidata.org/entity/Q37949718
PAX6 does not regulate Nfia and Nfib expression during neocortical development.Truncating mutation in NFIA causes brain malformation and urinary tract defects.Partial Deletion of Chromosome 1p31.1 Including only the Neuronal Growth Regulator 1 Gene in Two SiblingsAstroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus CallosumChromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the LiteratureJuvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the LiteratureLoss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.A Case of Congenital Hypopituitarism Associated With a 1p31 Microdeletion: A Possible Role for LEPR and JAK1.NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
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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

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http://www.wikidata.org/entity/Q37949718
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article científic
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article scientifique
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articol științific
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articolo scientifico
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Chromosome 1p32-p31 deletion s ...... s, abnormal external genitalia
@en
Chromosome 1p32-p31 deletion s ...... s, abnormal external genitalia
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type
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Chromosome 1p32-p31 deletion s ...... s, abnormal external genitalia
@en
Chromosome 1p32-p31 deletion s ...... s, abnormal external genitalia
@nl
prefLabel
Chromosome 1p32-p31 deletion s ...... s, abnormal external genitalia
@en
Chromosome 1p32-p31 deletion s ...... s, abnormal external genitalia
@nl
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Chromosome 1p32-p31 deletion s ...... s, abnormal external genitalia
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10.1016/J.TJOG.2011.07.014
P433
P478
P50
P577
P698
P921