Bosch-Boonstra-Schaafov sindrom optičke atrofije: razlika između verzija

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{{Infokutija bolest
| ime = Sindrom Bosch-Boonstra-Schaafove očne atrofije<br>(BBSOAS <ref>{{cite web |title=OMIM Entry – # 615722 – Bosch-Boonstra-Schaaf Optic Atrophy Syndrome; BBSOAS |url=https://omim.org/entry/615722 |website=omim.org |accessdateaccess-date=19. January1. 2020}}</ref>)
| slika = Autosomal dominant - en.svg
| opis_slike = Ovo stanje [[nasljeđivanje|nasljeđuje]] se autosomno dominantnim putem
}}
 
'''Bosch-Boonstra-Schaafov sindrom optičke atrofije''' jest rijetko [[autosom]]no nasljedno stanje koje karakterizira [[zaostajanje u razvoju]], [[intelektualna invalidnost]] i smanjena [[oštrina vida]].<ref name=Bosch2014>Bosch DGM, Boonstra FN, Gonzaga-Jauregui C, Xu, M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers L E, Spruijt L, and 12 others. NR2F1 mutations cause optic atrophy with intellectual disability. American Journal of Human Genetics 94: 303-309</ref><ref name=Chen2016>Chen CA, Bosch DG, Cho MT7, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C (2016)The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genetics in Medicine. 18(11):1143-1150.</ref><ref name=Chen2019>Chen CA, Wang W, Pedersen SE, Raman A, Seymour ML, Ruiz FR, Xia A, van der Heijden ME, Wang L, Yin J, Lopez J, Rech ME, Lewis RA, Wu SM, Liu Z, Pereira FA, Pautler RG, Zoghbi HY, Schaaf CP (2019) Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity. Human Molecular Genetics. 2020;29(5):705-715. {{PMID|31600777}}. PMCID PMC7104670. doi 10.1093/hmg/ddz233 </ref>
 
==Ispoljavanje==
 
== Vanjski linkovi ==
 
{{DEFAULTSORT:Bosch-Boonstra-Schaaf optic atrophy syndrome}}
[[Kategorija:Geni na hromosomu 5]]