Autosomal-dominant brachydactyly type E is a congenital limb malformation characterized by small hands and feet as a result of shortened metacarpals and metatarsals. Alterations that predict haploinsufficiency of PTHLH, the gene coding for parathyroid hormone related protein (PTHrP), have been identified as a cause of this disorder in seven families. Here, we report three patients affected with brachydactyly type E, caused by PTHLH mutations expected to result in haploinsufficiency, and discuss our data compared to published reports.
CITATION STYLE
Thomas-Teinturier, C., Pereda, A., Garin, I., Diez-Lopez, I., Linglart, A., Silve, C., & de Nanclares, G. P. (2016). Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review. American Journal of Medical Genetics, Part A, 170(3), 734–742. https://doi.org/10.1002/ajmg.a.37490
Mendeley helps you to discover research relevant for your work.