An association with mutations in the neuroblastoma amplified sequence gene (NBAS) has been reported.[2] 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–Huët anomaly syndrome and infantile liver failure syndrome.[citation needed]
Referencesedit
^RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Acrofrontofacionasal dysostosis". www.orpha.net. Retrieved 17 July 2019.{{cite web}}: CS1 maint: numeric names: authors list (link)
^Palagano, Eleonora; Zuccarini, Giulia; Prontera, Paolo; Borgatti, Renato; Stangoni, Gabriela; Elisei, Sandro; Mantero, Stefano; Menale, Ciro; Forlino, Antonella; Uva, Paolo; Oppo, Manuela; Vezzoni, Paolo; Villa, Anna; Merlo, Giorgio R; Sobacchi, Cristina (2018). "Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1". Bone. 114: 125–136. doi:10.1016/j.bone.2018.06.013. PMID 29929043. S2CID 49428435.
Further readingedit
Prontera, Paolo; Urciuoli, Riccardo; Siliquini, Sabrina; Macone, Sara; Stangoni, Gabriela; Donti, Emilio; Cantisani, Teresa Anna; Elia, Maurizio; Belcastro, Vincenzo (2011). "Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin". American Journal of Medical Genetics Part A. 155 (12): 3125–3127. doi:10.1002/ajmg.a.34295. ISSN 1552-4825.
Richieri‐Costa, A.; Colletto, G. M. D. D.; Gollop, T. R.; Masiero, D.; Opitz, John M.; Reynolds, James F. (1985). "A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto‐nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly‐syndactyly: Acro‐fronto‐facio‐nasal dysostosis syndrome". American Journal of Medical Genetics. 20 (4): 631–638. doi:10.1002/ajmg.1320200409. ISSN 0148-7299.
External linksedit
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acrofrontofacionasal, dysostosis, extremely, rare, disorder, characterized, intellectual, disability, short, stature, hypertelorism, broad, notched, nasal, cleft, palate, postaxial, camptobrachypolysyndactyly, fibular, hypoplasia, anomalies, foot, structure, c. 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 citation needed Acrofrontofacionasal dysostosisOther namesRichieri Costa Colletto syndrome 1 Acrofrontofacionasal dysostosis is inherited in an autosomal recessive manner SpecialtyMedical genetics An association with mutations in the neuroblastoma amplified sequence gene NBAS has been reported 2 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 citation needed References edit RESERVED INSERM US14 ALL RIGHTS Orphanet Acrofrontofacionasal dysostosis www orpha net Retrieved 17 July 2019 a href Template Cite web html title Template Cite web cite web a CS1 maint numeric names authors list link Palagano Eleonora Zuccarini Giulia Prontera Paolo Borgatti Renato Stangoni Gabriela Elisei Sandro Mantero Stefano Menale Ciro Forlino Antonella Uva Paolo Oppo Manuela Vezzoni Paolo Villa Anna Merlo Giorgio R Sobacchi Cristina 2018 Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1 Bone 114 125 136 doi 10 1016 j bone 2018 06 013 PMID 29929043 S2CID 49428435 Further reading editProntera Paolo Urciuoli Riccardo Siliquini Sabrina Macone Sara Stangoni Gabriela Donti Emilio Cantisani Teresa Anna Elia Maurizio Belcastro Vincenzo 2011 Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin American Journal of Medical Genetics Part A 155 12 3125 3127 doi 10 1002 ajmg a 34295 ISSN 1552 4825 Richieri Costa A Colletto G M D D Gollop T R Masiero D Opitz John M Reynolds James F 1985 A previously undescribed autosomal recessive multiple congenital anomalies mental retardation MCA MR syndrome with fronto nasal dysostosis cleft lip palate limb hypoplasia and postaxial poly syndactyly Acro fronto facio nasal dysostosis syndrome American Journal of Medical Genetics 20 4 631 638 doi 10 1002 ajmg 1320200409 ISSN 0148 7299 External links edit nbsp This genetic disorder article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Acrofrontofacionasal dysostosis amp oldid 1210332792, wikipedia, wiki, book, books, library,
