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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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| Publicado en: | Eur J Hum Genet |
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| Autores principales: | , , , , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Springer International Publishing
2019
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| Materias: | |
| Acceso en línea: | 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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