Germinal mosaicism in Simpson-Golabi-Behmel syndrome
Romanelli V, Arroyo I, Rodriguez JI, Magano L, Arias P, Incera I, Gracia-Bouthelier R, Lapunzina P. Clin Genet. 2007 Oct;72(4):384-65
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Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension
Del Campo M, Antonell A, Magano LF, Muñoz FJ, Flores R, Bayés M, Pérez Jurado LA. Am J Hum Genet. 2006 Apr;78(4):533-42. Epub 2006 Jan 31.
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation
Gripp KW, Lin AE, Stabley DL, Nicholson L, Scott CI Jr, Doyle D, Aoki Y, Matsubara Y, Zackai EH, Lapunzina P, Gonzalez-Meneses A, Holbrook J, Agresta CA, Gonzalez IL, Sol-Church K. Am J Med Genet A. 2006 Jan 1;140(1):1-7.
Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update
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