The unique combination of dermatological and ocular phenotypes in Alström syndrome: severe presentation, early onset and two novel ALMS1 mutations.
M
M
Kocova
E
E
Sukarova-Angelovska
R
R
Kacarska
P
P
Maffei
G
G
Milan
J D
JD
Marshall
D000052:Acanthosis Nigricans / Q000209:etiology; D000505:Alopecia / Q000209:etiology; D056769:Alstrom Syndrome / Q000235:genetics* / Q000473:pathology*; D001766:Blindness / Q000209:etiology / Q000235:genetics*; D018797:Cell Cycle Proteins; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006628:Hirsutism / Q000209:etiology; D006801:Humans; D009154:Mutation; D010641:Phenotype; D011506:Proteins / Q000235:genetics*
C490729:ALMS1 protein, human; D018797:Cell Cycle Proteins; D011506:Proteins