1.
Clin Exp Dermatol
; 45(2): 263-264, 2020 Mar.
Article
in English
| MEDLINE
| ID: mdl-31323127
Subject(s)
Arteriovenous Fistula/genetics , Intracranial Arteriovenous Malformations/genetics , Vascular Malformations , Abnormalities, Multiple , Aged , Amaurosis Fugax/etiology , Arteriovenous Fistula/complications , Arteriovenous Fistula/diagnostic imaging , Female , Humans , Intracranial Arteriovenous Malformations/complications , Intracranial Arteriovenous Malformations/diagnostic imaging , Male , Mutation , Pedigree , Tomography, X-Ray Computed
2.
Chir Main
; 27 Suppl 1: S7-20, 2008 Dec.
Article
in French
| MEDLINE
| ID: mdl-18838287
ABSTRACT
Most congenital defects of the hand have a genetic basis, mostly monogenic, especially when they are bilateral. The recent progresses of molecular genetics together with the comprehension of the molecular mechanisms of development have led to identify a growing number of genes whose mutations are implicated in the genesis of hand malformations. When isolated, the mode of inheritance is often autosomal dominant with intrafamilial variability. The hand malformation may be the first manifestation of a more complex syndrome, the other symptoms appearing later in life. Children must be referred to a pediatric and/or genetic clinic in order to perform complementary investigations.