A novel homozygous HESX1 mutation causes panhypopituitarism without midline defects and optic nerve anomalies

Journal of Pediatric Endocrinology and Metabolism

Volumn 24, Issue 9-10, 2011, Pages 779-782

  Durmaz, Burak ^a   Cogulu, Ozgur ^a   Dizdarer, Ceyhun ^b   Stobbe, Heike ^c   Pfaeffle, Roland ^c   Ozkinay, Ferda ^a  

^a EGE UNIVERSITY   (Turkey)

^b DR BEHÇET UZ CHILDREN'S HOSPITAL   (Turkey)

^c UNIVERSITY OF LEIPZIG   (Germany)

Author keywords

HESX1 gene; Panhypopituitarism; Septo optic dysplasia

Indexed keywords

PREDNISOLONE; THYROXINE;

ARTICLE; CASE REPORT; ELECTROENCEPHALOGRAPHY; GENE MUTATION; GENE SEQUENCE; HESX1 GENE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPOPITUITARISM; INFANT; MALE; NEUROIMAGING; OBESITY; OPTIC NERVE DISEASE; TONIC CLONIC SEIZURE;

HOMEODOMAIN PROTEINS; HOMOZYGOTE; HUMANS; HYPOPITUITARISM; INFANT; MAGNETIC RESONANCE IMAGING; MALE; OPTIC NERVE; PITUITARY GLAND; PITUITARY GLAND, ANTERIOR; PITUITARY GLAND, POSTERIOR; POINT MUTATION; SEPTO-OPTIC DYSPLASIA;

EID: 80054086887     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/JPEM.2011.162     Document Type: Article

References (7)

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