| 词条 | Acrofrontofacionasal dysostosis |
| 释义 |
Acrofrontofacionasal dysostosis is an extremely rare disorder, characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip/palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia, and anomalies of foot structure. An association with mutations in the neuroblastoma amplified sequence gene (NBAS) has been reported.[1] This gene is located on the short arm of chromosome 2. Mutations in this gene have been associated with the Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly syndrome and Infantile Liver Failure Syndrome. References1. ^{{cite journal |doi=10.1016/j.bone.2018.06.013 |pmid=29929043 |title=Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1 |journal=Bone |volume=114 |pages=125–136 |year=2018 |last1=Palagano |first1=Eleonora |last2=Zuccarini |first2=Giulia |last3=Prontera |first3=Paolo |last4=Borgatti |first4=Renato |last5=Stangoni |first5=Gabriela |last6=Elisei |first6=Sandro |last7=Mantero |first7=Stefano |last8=Menale |first8=Ciro |last9=Forlino |first9=Antonella |last10=Uva |first10=Paolo |last11=Oppo |first11=Manuela |last12=Vezzoni |first12=Paolo |last13=Villa |first13=Anna |last14=Merlo |first14=Giorgio R |last15=Sobacchi |first15=Cristina }}
External links{{Medical resources| ICD10 = Q75.1 | ICD9 = | ICDO = | OMIM = 201180 | DiseasesDB = | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeSH = | GeneReviewsNBK = | GeneReviewsName = | Orphanet = 1784 }}{{genetic-disorder-stub}} 2 : Rare diseases|Genetic diseases and disorders |
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