A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway

Hartsfield syndrome (HS) is an ultrarare developmental disorder mainly featuring holoprosencephaly and ectrodactyly. It is caused by heterozygous or biallelic variants in FGFR1. Recently, a dominant-negative effect was suggested for FGFR1 variants associated with HS. Here, exome sequencing analysis...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Palumbo, Pietro, Petracca, Antonio, Maggi, Roberto, Biagini, Tommaso, Nardella, Grazia, Sacco, Michele Carmine, Di Schiavi, Elia, Carella, Massimo, Micale, Lucia, Castori, Marco
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6777633/
https://ncbi.nlm.nih.gov/pubmed/30787447
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0350-4
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