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FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
Simonis N, Migeotte I, Lambert N, Perazzolo C, de Silva DC, Dimitrov B, Heinrichs C, Janssens S, Kerr B, Mortier G, Van Vliet G, Lepage P, Casimir G, Abramowicz M, Smits G, Vilain C. Simonis N, et al. Among authors: lepage p. J Med Genet. 2013 Sep;50(9):585-92. doi: 10.1136/jmedgenet-2013-101603. Epub 2013 Jun 28. J Med Genet. 2013. PMID: 23812909 Free PMC article.
Infantile and childhood bacterial meningitis.
Lepage P, Dan B. Lepage P, et al. Handb Clin Neurol. 2013;112:1115-25. doi: 10.1016/B978-0-444-52910-7.00031-3. Handb Clin Neurol. 2013. PMID: 23622319 Review.
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