"Efficacy and safety of sirolimus in the treatment of vascular anomalies: A systematic review". Journal of Vascular Surgery. 71 (1): 318–327. doi:10.1016/j.jvs.2019.06.217. PMID 31676179. S2CID 207831199. Geeurickx M, Labarque V (September 2021). "A narrative review of the role of sirolimus in the treatment of congenital vascular malformations". Journal of Vascular Surgery. Venous and Lymphatic Disorders. 9 (5): 1321–1333. doi:10.1016/j.jvsv.2021.03.001. PMID 33737259. External links

"Sirolimus". Drug Information Portal. U.S. National Library of Medicine. Clinical trial number NCT02494570 for "A Phase 2 Study of ABI-009 in Patients With Advanced Malignant PEComa (AMPECT)" at ClinicalTrials.gov
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. 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. References

Richieri-Costa A, Colletto GM, Gollop TR, Masiero D (April 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". Am. J. Med. Genet. 20 (4): 631–8. doi:10.1002/ajmg.1320200409. PMID 2986457. == External links ==