1.
Clin Case Rep
; 5(1): 66-68, 2017 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28096993
RESUMO
We present the case of a newborn with co-occurrence of Marfan syndrome and aplasia cutis congenita (ACC) and a family history significant for Marfan syndrome and ACC in the father. This case details a previously unreported mutation in Marfan syndrome and describes a novel coinheritance of Marfan syndrome and ACC.