Nfib haploinsufficiency
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04/10/2022
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18/02/2022
https://lilloa.univ-lille.fr/handle/20.500.12210/55355?locale-attribute=en
Nfib haploinsufficiency is associated with intellectual disability and macrocephaly
18/02/2022
https://www.verywellmind.com/what-is-high-functioning-autism-5198358
What Is "High-Functioning" Autism? Autism is a neurodevelopmental condition that exists on a spectrum. Learn more about what it means to have “high-functioning” autism.
https://omim.org/clinicalSynopsis/618286
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15/01/2022
NFIB Symptoms
Regardless of prior research, this latest study is the first to describe this unique combination of symptoms resulting from the mutation of NFIB. Aside from mild intellectual disability and macrocephaly, other symptoms associated with this mutation include behavioral abnormalities, attention deficit disorder, speech delays, and poor muscle tone. This syndrome is incredibly rare; only 18 patients worldwide have been identified.
NFIB-symtom
Oavsett tidigare forskning är denna senaste studie den första som beskriver denna unika kombination av symtom som härrör från mutationen av NFIB. Bortsett från mild intellektuell funktionsnedsättning och makrocefali, inkluderar andra symtom associerade med denna mutation beteendeavvikelser, uppmärksamhetsstörning, talförseningar och dålig muskeltonus. Detta syndrom är otroligt sällsynt; endast 18 patienter över hela världen har identifierats.
NFIB haploinsufficiency has only recently been presented as a cause for macrocephaly-intellectual disability syndrome, with comparable phenotypes to NFIA related disorder.
NFIB-haploinsufficiens har först nyligen presenterats som en orsak till makrocefali-intellektuell funktionsnedsättning, med fenotyper jämförbara med NFIA-relaterad störning.
08/11/2021