Ellis-van Creveld syndrome in a patient from Tanzania

Autor: Marieke C. J. Dekker, David H Morton, Vivian J Mdavire, Ben C.J. Hamel, Mubashir Alavi Jusabani, Adnan Sadiq, Frank Baas

Publikováno v: American Journal of Medical Genetics. Part A, 179, 10, pp. 2034-2038
American Journal of Medical Genetics Part A, 179(10), 2034-2038. WILEY
American Journal of Medical Genetics. Part A, 179, 2034-2038

We report an African infant with Ellis-van Creveld (EVC) syndrome. EVC syndrome is a chondral and ectodermal dysplasia with autosomal recessive transmission. The baby presented with polydactyly, short limbs and atrioventricular septal defect, but was

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd22d6426bedf31f2714ef632483066c
https://hdl.handle.net/2066/208487