Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts

BACKGROUND: Primary lymphoedema (PL) syndromes are increasingly recognised as presentations of complex genetic disease, with at least 20 identified causative genes. Recognition of clinical patterns is key to diagnosis, research and therapeutics. The defining criteria for one such clinical syndrome,...

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Detalles Bibliográficos
Autores principales: Mansour, Sahar, Josephs, Katherine S, Ostergaard, Pia, Gordon, Kristiana, Van Zanten, Malou, Pearce, Julian, Jeffery, Steve, Keeley, Vaughan, Riches, Katie, Kreuter, Alexander, Wieland, Ulrike, Hägerling, René, Ratnam, Lakshmi, Sackey, Ege, Grigoriadis, Dionysios, Ho, Bernard, Smith, Frances, Rauter, Elisabeth, Mortimer, Peter, Macallan, Derek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Phenotypes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9811088/
https://www.ncbi.nlm.nih.gov/pubmed/34916230
http://dx.doi.org/10.1136/jmedgenet-2021-107820

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