Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure.

Hwa, Vivian; Haeusler, Gabriele; Pratt, Katherine L; Little, Brian M; Frisch, Herwig; Koller, Dieter; Rosenfeld, Ron G

Hwa, Vivian; Haeusler, Gabriele; Pratt, Katherine L; Little, Brian M; Frisch, Herwig; Koller, Dieter; Rosenfeld, Ron G.

Affiliation

Hwa V; Department of Pediatrics, Oregon Health and Science University, 3181 Southwest Sam Jackson Park Road, Portland, Oregon 97239-3098, USA. hwav@ohsu.edu

J Clin Endocrinol Metab ; 91(5): 1826-31, 2006 May.

Article in En | MEDLINE | ID: mdl-16507628

Subject(s)

Carrier Proteins/genetics; Glycoproteins/genetics; Growth Disorders/genetics; Mutation, Missense/genetics; Mutation, Missense/physiology; Somatomedins/deficiency; Blotting, Western; Cells, Cultured; Child; DNA, Complementary/genetics; Fibroblasts/metabolism; Glycoproteins/deficiency; Human Growth Hormone/blood; Humans; Insulin-Like Growth Factor Binding Protein 3/deficiency; Insulin-Like Growth Factor I/deficiency; Ligands; Male; Puberty/physiology; Skin/cytology

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Collection: 01-internacional Database: MEDLINE Main subject: Somatomedins / Glycoproteins / Carrier Proteins / Mutation, Missense / Growth Disorders Type of study: Prognostic_studies Limits: Child / Humans / Male Language: En Journal: J Clin Endocrinol Metab Year: 2006 Type: Article Affiliation country: United States

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