A complex structural variant near SOX3 causes X-linked split-hand/foot malformation

Split-hand/foot malformation (SHFM) is a congenital limb defect most typically presenting with median clefts in hands and/or feet, that can occur in a syndromic context as well as in isolated form. SHFM is caused by failure to maintain normal apical ectodermal ridge function during limb development....

Descripción completa

Detalles Bibliográficos
Autores principales: de Boer, Elke, Marcelis, Carlo, Neveling, Kornelia, van Beusekom, Ellen, Hoischen, Alexander, Klein, Willemijn M., de Leeuw, Nicole, Mantere, Tuomo, Melo, Uirá S., van Reeuwijk, Jeroen, Smeets, Dominique, Spielmann, Malte, Kleefstra, Tjitske, van Bokhoven, Hans, Vissers, Lisenka E.L.M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10196709/
https://www.ncbi.nlm.nih.gov/pubmed/37216008
http://dx.doi.org/10.1016/j.xhgg.2023.100200

Ejemplares similares

Ejemplares similares