| 词条 | Goldberg–Shprintzen syndrome |
| 释义 |
| name = Goldberg–Shprintzen syndrome | synonyms = | image = Autosomal recessive - en.svg | image_size = 150px | caption = Goldberg–Shprintzen syndrome is inherited in an autosomal recessive manner | pronounce = | field = | symptoms = | complications = | #nset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Goldberg–Shprintzen is a condition associated with mutations in KIAA1279 gene which encodes KIF-binding protein (KBP), a protein that may interact with microtubules and actin filament. KBP may play a key role in cytoskeleton formation and neurite growth.[1] Hirschsprung's disease may be part of the presentation. Individuals with the syndrome exhibit ocular (ptosis, hyperopia, or megalocornea), cardiac, urogenital (vesicoureteral reflux, multicystic renal dysplasia), and skeletal (oligodontia, scoliosis, high-arched palate) developmental abnormalities. References1. ^{{cite journal|url=https://academic.oup.com/hmg/article/22/12/2387/629200|title=KBP–cytoskeleton interactions underlie developmental anomalies in Goldberg–Shprintzen syndrome|first1=Loïc|last1=Drévillon|first2=André|last2=Megarbane|first3=Bénédicte|last3=Demeer|first4=Corine|last4=Matar|first5=Paule|last5=Benit|first6=Audrey|last6=Briand-Suleau|first7=Virginie|last7=Bodereau|first8=Jamal|last8=Ghoumid|first9=Mayssa|last9=Nasser|first10=Xavier|last10=Decrouy|first11=Martine|last11=Doco-Fenzy|first12=Pierre|last12=Rustin|first13=Dominique|last13=Gaillard|first14=Michel|last14=Goossens|first15=Irina|last15=Giurgea|date=15 June 2013|journal=Human Molecular Genetics|volume=22|issue=12|pages=2387–2399|via=hmg.oxfordjournals.org|doi=10.1093/hmg/ddt083|pmid=23427148}} External links{{Medical resources| DiseasesDB = | ICD10 = Q87.8 | ICD9 = | ICDO = | OMIM = 609460 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = C537279 | Orphanet = 66629 }}{{DEFAULTSORT:Goldberg-Shprintzen syndrome}}{{genetic-disorder-stub}} 2 : Congenital disorders|Syndromes |
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