Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1.

Osorio, M G; Kopp, P; Marui, S; Latronico, A C; Mendonca, B B; Arnhold, I J

Osorio, M G; Kopp, P; Marui, S; Latronico, A C; Mendonca, B B; Arnhold, I J.

Affiliation

Osorio MG; Unidade de Endocrinologia do Desenvolvimento e Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, Brazil.

J Clin Endocrinol Metab ; 85(8): 2779-85, 2000 Aug.

Article in En | MEDLINE | ID: mdl-10946881

Subject(s)

Homeodomain Proteins/genetics; Hypopituitarism/genetics; Pituitary Hormones/deficiency; Point Mutation; Amino Acid Sequence; Amino Acid Substitution; Base Sequence; Consanguinity; Conserved Sequence; Female; Humans; Hypopituitarism/drug therapy; Hypopituitarism/physiopathology; Infant; Male; Phenylalanine; Pituitary Gland/diagnostic imaging; Radiography; Serine

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Database: MEDLINE Main subject: Pituitary Hormones / Point Mutation / Homeodomain Proteins / Hypopituitarism Type of study: Diagnostic_studies Language: En Journal: J Clin Endocrinol Metab Year: 2000 Type: Article Affiliation country: Brazil

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