SCOPUS 정보 검색 플랫폼

Volumn 164, Issue 4, 2011, Pages 878-880

The unique combination of dermatological and ocular phenotypes in Alström syndrome: Severe presentation, early onset and two novel ALMS1 mutations

(6) Kocova, M a Sukarova Angelovska, E a Kacarska, R a Maffei, P b Milan, G b Marshall, Jan D c

a UNIVERSITY CHILDREN S HOSPITAL (Macedonia)

b UNIVERSITY OF PADOVA (Italy)

c JACKSON LABORATORY (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACANTHOSIS NIGRICANS; ALMS1 GENE; ALOPECIA; ALSTROM SYNDROME; ANAMNESIS; ARTICLE; BLINDNESS; CASE REPORT; CHILD; CLINICAL FEATURE; DYSTROPHY; EYE DISEASE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HAIR LOSS; HIRSUTISM; HUMAN; HYPERPHAGIA; NYSTAGMUS; PHENOTYPE; PHOTOPHOBIA; PRIORITY JOURNAL; RETINOPATHY; SCHOOL CHILD; SKIN DISEASE; SUBCAPSULAR CATARACT;

ACANTHOSIS NIGRICANS; ALOPECIA; ALSTROM SYNDROME; BLINDNESS; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HIRSUTISM; HUMANS; MUTATION; PHENOTYPE; PROTEINS;

EID: 79953681608 PISSN: 00070963 EISSN: 13652133 Source Type: Journal
DOI: 10.1111/j.1365-2133.2010.10157.x Document Type: Article

Times cited : (6)

References (7)

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3
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