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Ehlers‐Danlos syndromes: Revised nosology, Villefranche, 1997
Categorization of the Ehlers-Danlos syndromes began in the late 1960s and was formalized in the Berlin nosology. Over time, it became apparent that the diagnostic criteria established and publishedExpand
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Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
Split-hand/split-foot malformation (SHFM), a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/orExpand
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Chronic pain is a manifestation of the Ehlers-Danlos syndrome.
The Ehlers-Danlos syndrome (EDS) is a group of heritable systemic disorders of connective tissue manifesting joint hypermobility, skin extensibility, and tissue fragility. Although the presence ofExpand
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Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1
Chondrodysplasia Grebe type (CGT) is an autosomal recessive disorder characterized by severe limb shortening and dysmorphogenesis. We have identified a causative point mutation in the gene encodingExpand
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Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).
Categorization of the Ehlers-Danlos syndromes began in the late 1960s and was formalized in the Berlin nosology. Over time, it became apparent that the diagnostic criteria established and publishedExpand
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Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes
MARFAN syndrome (MFS), one of the most common genetic disorders of connective tissue, is characterized by skeletal, cardiovascular and ocular abnormalities1. The incidence of the disease is about 1Expand
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Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2.
The segregation of COL1A1 and COL1A2, the two genes which encode the chains of type I collagen, was analyzed in 38 dominant osteogenesis imperfecta (OI) pedigrees by using polymorphic markers withinExpand
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Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene.
Acheiropodia is an autosomal recessive developmental disorder presenting with bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. This severelyExpand
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Psychosocial functioning in the Ehlers-Danlos syndrome.
Ehlers-Danlos Syndrome (EDS) is a group of related genetic disorders of connective tissue presenting with joint hypermobility, skin extensibility, and tissue fragility. Although the pathophysiologyExpand
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Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominantly inherited chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattenedExpand
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