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Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype

BACKGROUND: There are few reports describing the proximal deletions of the short arm of chromosome 20, making it difficult to predict the likely consequences of these deletions. Most previously reported cases have described the association of 20p11.2 deletions with Alagille syndrome, while there are...

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Detalles Bibliográficos
Autores principales: Mohammed, Idris, Al‐Khawaga, Sara, Bohanna, David, Shabani, Abdusamea, Khan, Faiyaz, Love, Donald R., Nawaz, Zafar, Hussain, Khalid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284027/
https://www.ncbi.nlm.nih.gov/pubmed/32277595
http://dx.doi.org/10.1002/mgg3.1086