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Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome
Mutations in FGFR1 have recently been associated with Hartsfield syndrome, a clinically distinct syndromic form of holoprosencephaly (HPE) with ectrodactly, which frequently includes combinations of craniofacial, limb and brain abnormalities not typical for classical HPE. Unrelated clinical conditio...
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| Pubblicato in: | Hum Mol Genet |
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| Autori principali: | , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Oxford University Press
2016
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5062582/ https://ncbi.nlm.nih.gov/pubmed/26931467 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw064 |
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