Duplication of 10q24 locus: broadening the clinical and radiological spectrum

Split-hand–split-foot malformation (SHFM) is a rare condition that occurs in 1 in 8500–25,000 newborns and accounts for 15% of all limb reduction defects. SHFM is heterogeneous and can be isolated, associated with other malformations, or syndromic. The mode of inheritance is mostly autosomal dominan...

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Publicat a:Eur J Hum Genet
Autors principals: Holder-Espinasse, Muriel, Jamsheer, Aleksander, Escande, Fabienne, Andrieux, Joris, Petit, Florence, Sowinska-Seidler, Anna, Socha, Magdalena, Jakubiuk-Tomaszuk, Anna, Gerard, Marion, Mathieu-Dramard, Michèle, Cormier-Daire, Valérie, Verloes, Alain, Toutain, Annick, Plessis, Ghislaine, Jonveaux, Philippe, Baumann, Clarisse, David, Albert, Farra, Chantal, Colin, Estelle, Jacquemont, Sébastien, Rossi, Annick, Mansour, Sahar, Ghali, Neeti, Moncla, Anne, Lahiri, Nayana, Hurst, Jane, Pollina, Elena, Patch, Christine, Ahn, Joo Wook, Valat, Anne-Sylvie, Mezel, Aurélie, Bourgeot, Philippe, Zhang, David, Manouvrier-Hanu, Sylvie
Format: Artigo
Idioma:Inglês
Publicat: Springer International Publishing 2019
Matèries:
Review Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6460637/
https://ncbi.nlm.nih.gov/pubmed/30622331
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0326-9
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