Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype.

Urbán, Z; Peyrol, S; Plauchu, H; Zabot, M T; Lebwohl, M; Schilling, K; Green, M; Boyd, C D; Csiszár, K

Urbán, Z; Peyrol, S; Plauchu, H; Zabot, M T; Lebwohl, M; Schilling, K; Green, M; Boyd, C D; Csiszár, K.

Affiliation

Urbán Z; Pacific Biomedical Research Center, University of Hawaii, Honolulu 96822, USA.

Pediatr Dermatol ; 17(1): 12-20, 2000.

Article in En | MEDLINE | ID: mdl-10720981

Subject(s)

Elastic Tissue/pathology; Elastin/genetics; Gene Deletion; Skin/pathology; Williams Syndrome/genetics; Adult; Child; Child, Preschool; Elastic Tissue/ultrastructure; Female; Humans; Male; Phenotype; Williams Syndrome/diagnosis

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Collection: 01-internacional Database: MEDLINE Main subject: Skin / Elastin / Gene Deletion / Williams Syndrome / Elastic Tissue Type of study: Diagnostic_studies Limits: Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Pediatr Dermatol Year: 2000 Type: Article Affiliation country: United States

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