Congenital combined pituitary hormone deficiency attributable to a novel PROP1 mutation (467insT)

Journal of Pediatric Endocrinology and Metabolism

Volumn 19, Issue 4, 2006, Pages 491-498

  Nose, Osamu ^a   Tatsumi, Keita ^a   Nakano, Yukiko ^a   Amino, Nobuyuki ^a  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

Author keywords

Anterior pituitary; Combined pituitary hormone deficiency (CPHD); Growth hormone (GH); Growth retardation; PROP1 mutation

Indexed keywords

CORTICOTROPIN; GONADOTROPIN; GROWTH HORMONE; HYPOPHYSIS HORMONE; RECOMBINANT GROWTH HORMONE; THYROTROPIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PROPHET OF PIT1; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; CODON USAGE; COMBINED PITUITARY HORMONE DEFICIENCY; FAMILIAL DISEASE; FEMALE; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GROWTH RETARDATION; HORMONE DETERMINATION; HORMONE RELEASE; HORMONE SUBSTITUTION; HUMAN; HYPOPITUITARISM; HYPOPLASIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; PROMOTER REGION; PROTEIN FUNCTION; SIBLING; TRANSCRIPTION INITIATION;

BASE SEQUENCE; BODY HEIGHT; CHILD; CHILD, PRESCHOOL; DWARFISM, PITUITARY; FEMALE; HOMEODOMAIN PROTEINS; HORMONE REPLACEMENT THERAPY; HUMAN GROWTH HORMONE; HUMANS; PEDIGREE; PITUITARY HORMONES; POINT MUTATION; RECOMBINANT PROTEINS; THYROID HORMONES;

EID: 33646830832     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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