Author:
Lombardi F,Fasciglione GF,D’Apice MR,Vielle A,D’Adamo M,Sbraccia P,Marini S,Borgiani P,Coletta M,Novelli G
Subject
Genetics(clinical),Genetics
Reference72 articles.
1. New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys;Young;Birth Defects Orig Artic Ser,1971
2. Mandibuloacral dysplasia: a report of two Egyptian cases;Afifi;Genet Couns,2005
3. Mandibuloacral dysplasia is caused by a mutation in LMNA encoding lamin A/C;Novelli;Am J Hum Genet,2002
4. Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C;Shen;J Med Genet,2003
5. A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia;Garg;J Clin Endocrinol Metab,2005
Cited by
15 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献