Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand featuresEvans, Daniel R ; Green, Jane S ; Fahiminiya, Somayyeh ; Majewski, Jacek ; Fernandez, Bridget A ; Deardorff, Matthew A ; Johnson, Gordon J ; Whelan, James H ; Hubmacher, Dirk ; Apte, Suneel S ; Woods, Michael OScientific reports, 2020-07, Vol.10 (1), p.10827-10827, Article 10827 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |