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Karger

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Brachydactyly type A2 associated with a defect in proGDF5 processing

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Missense mutations in COL8A2 , the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

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Genomic Screening for β-Sarcoglycan Gene Mutations: Missense Mutations May Cause Severe Limb-girdle Muscular Dystrophy Type 2E (LGMD 2E)

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Two Novel Missense Mutations (R766M and R792G) in Exon 13 of the CFTR Gene in a Patient with Congenital Bilateral Absence of the Vas deferens

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