Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome

Heterozygous kinase domain mutations or homozygous extracellular domain mutations in FGFR1 have been reported to cause Hartsfield syndrome (HS), which is characterized by the triad of holoprosencephaly, ectrodactyly and cleft lip/palate. To date, more than 200 mutations in FGFR1 have been described;...

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Publicado en:Hum Genome Var
Autores principales: Takagi, Masaki, Miyoshi, Tatsuya, Nagashima, Yuka, Shibata, Nao, Yagi, Hiroko, Fukuzawa, Ryuji, Hasegawa, Tomonobu
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2016
Materias:
Data Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5061861/
https://ncbi.nlm.nih.gov/pubmed/27790375
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.34
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