A Second Family with Myhre Syndrome Caused by the Same Recurrent < b > < i > SMAD4 < /i > < /b > Pathogenic Variation (p.Arg496Cys)

We report this study to remind the clinicians to be aware of the parental transmission ofSMAD4 variations and also evaluate the parents of the Myhre cases.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research