No abstract available
MeSH terms
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Abnormalities, Multiple / genetics*
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Adipose Tissue / pathology
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Alopecia / genetics
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Biopsy
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Blepharoptosis / genetics
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Bone Diseases, Metabolic / genetics
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Cerebellar Ataxia / genetics
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Child
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Ectodermal Dysplasia / genetics*
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Eyebrows / abnormalities*
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Humans
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Joint Diseases / genetics
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Male
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Nystagmus, Pathologic / genetics
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Phenotype
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Skin / pathology
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Strabismus / genetics
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Syndrome