Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene.
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L
Titomanlio
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De Brasi
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A
Buoninconti
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MP
Sperandeo
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A
Pepe
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G
Andria
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G
Sebastio
D000015:Abnormalities, Multiple / Q000235:genetics*; D018797:Cell Cycle Proteins; D002675:Child, Preschool; D018389:Codon, Nonsense; D006801:Humans; D008297:Male; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D035781:Siblings; D013577:Syndrome
C490729:ALMS1 protein, human; D018797:Cell Cycle Proteins; D018389:Codon, Nonsense; D011506:Proteins