A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: Functional analysis and follow-up from infancy to adulthood

Clinical Endocrinology

Volumn 75, Issue 2, 2011, Pages 214-219

  Tenenbaum Rakover, Yardena ^a,b   Sobrier, Marie Laure ^c   Amselem, Serge ^c  

^a HAEMEK MEDICAL CENTER   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN; PROLACTIN; THYROTROPIN BETA SUBUNIT; TRANSCRIPTION FACTOR PIT 1;

ADENOHYPOPHYSIS DISEASE; ADULT; ARAB; ARTICLE; CASE REPORT; CODON; COMBINED PITUITARY HORMONE DEFICIENCY; CONGENITAL HYPOTHYROIDISM; DELAYED PUBERTY; DISEASE ASSOCIATION; DISEASE SEVERITY; EXON; FOLLOW UP; GROWTH RETARDATION; HORMONE DEFICIENCY; HUMAN; HYPOGLYCEMIA; INFANT; ISRAEL; LOSS OF FUNCTION MUTATION; MALE; MOSLEM; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; FOLLOW-UP STUDIES; GROWTH DISORDERS; GROWTH HORMONE; HUMANS; HYPOGLYCEMIA; HYPOPITUITARISM; HYPOTHYROIDISM; INFANT; MALE; MUTATION; NEUROIMAGING; PROLACTIN; TRANSCRIPTION FACTOR PIT-1; YOUNG ADULT;

EID: 79960183372     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2011.04028.x     Document Type: Article

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