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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: van vliet g. 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.
Congenital hypothyroidism and cystic fibrosis.
Depasse C, Chanoine JP, Casimir G, Van Vliet G. Depasse C, et al. Among authors: van vliet g. Acta Paediatr Scand. 1991 Oct;80(10):981-3. doi: 10.1111/j.1651-2227.1991.tb11768.x. Acta Paediatr Scand. 1991. PMID: 1755312
Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.
Brue T, Quentien MH, Khetchoumian K, Bensa M, Capo-Chichi JM, Delemer B, Balsalobre A, Nassif C, Papadimitriou DT, Pagnier A, Hasselmann C, Patry L, Schwartzentruber J, Souchon PF, Takayasu S, Enjalbert A, Van Vliet G, Majewski J, Drouin J, Samuels ME. Brue T, et al. Among authors: van vliet g. BMC Med Genet. 2014 Dec 19;15:139. doi: 10.1186/s12881-014-0139-9. BMC Med Genet. 2014. PMID: 25524009 Free PMC article.
[Contribution of MRI in 5 cases of central diabetes insipidus].
Christophe C, Balériaux D, Hanquinet S, Heinrichs C, Sariban E, Segebarth C, Van Vliet G, Perlmutter N. Christophe C, et al. Among authors: van vliet g. Pediatrie. 1990;45(7-8):505-10. Pediatrie. 1990. PMID: 2170928 French.
217 results