No abstract available
MeSH terms
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Adult
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Chondrodysplasia Punctata / diagnosis
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Chondrodysplasia Punctata / genetics*
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Craniofacial Abnormalities / diagnosis
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Craniofacial Abnormalities / genetics*
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DNA Mutational Analysis
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Genetic Predisposition to Disease
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Humans
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Intestines / abnormalities*
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Male
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Mosaicism*
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Mutation*
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Phenotype
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Skin Abnormalities / diagnosis
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Skin Abnormalities / genetics*
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Smoothened Receptor / genetics*
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Syndactyly / diagnosis
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Syndactyly / genetics*
Substances
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SMO protein, human
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Smoothened Receptor
Supplementary concepts
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Winter Shortland Temple syndrome