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Neurofibromatosis type 1 protein and amyloid precursor protein interact in normal human melanocytes and colocalize with melanosomes
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Cafe-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind?
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Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in Blepharophimosis syndrome
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Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome
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Pigment cell-related manifestations in neurofibromatosis type 1: an overview
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Neurofibromin is actively transported to the nucleus
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A new type of autosomal recessive spondyloepiphyseal dysplasia tarda
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Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)
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BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families
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FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation