The unique combination of dermatological and ocular phenotypes in Alstrom syndrome: severe presentation, early onset and two novel ALMS1 mutations.
Document Type
Article
Publication Date
2011
Keywords
Alopecia, Alstrom-Syndrome, Blindness, Child, DNA-Mutational-Analysis, Female, Hirsutism, Humans, Mutation, Phenotype, Proteins
JAX Location
see Reprint Collection (a pdf is available)
JAX Source
Br J Dermatol 2011 Apr; 164(4):878-80.
First Page
878
Last Page
880
Recommended Citation
Kocova M,
Sukarova AE,
Kacarska R,
Maffei P,
Milan G,
Marshall JD.
The unique combination of dermatological and ocular phenotypes in Alstrom syndrome: severe presentation, early onset and two novel ALMS1 mutations. Br J Dermatol 2011 Apr; 164(4):878-80.
COinS