Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis.
Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis. Am J Med Genet A. 2006 Jul 01; 140(13):1440-6.
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Abnormalities, Multiple
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Abnormalities, Multiple
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Bone and Bones
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Bone and Bones
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Consanguinity
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Consanguinity
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Databases, Genetic
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Databases, Genetic
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DNA Mutational Analysis
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DNA Mutational Analysis
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Family Characteristics
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Family Characteristics
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Female
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Female
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Foot Deformities, Congenital
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Foot Deformities, Congenital
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Genes, Dominant
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Genes, Dominant
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Genetic Linkage
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Genetic Linkage
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Genotype
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Genotype
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Hand Deformities, Congenital
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Hand Deformities, Congenital
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Haplotypes
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Haplotypes
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Humans
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Humans
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Male
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Male
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Pedigree
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Pedigree
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Penetrance
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Penetrance
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Phenotype
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Phenotype
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Polymorphism, Genetic
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Polymorphism, Genetic
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Radiography
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Radiography
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United Arab Emirates
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United Arab Emirates