Heterozygous mutation of HESX1 causing hypopituitarism and multiple anatomical malformations without features of septo-optic dysplasia

Journal of Endocrinological Investigation

Volumn 31, Issue 8, 2008, Pages 689-693

  Corneli, G ^a   Vivenza, D ^a   Prodam, F ^a   di Dio, G ^a   Vottero, A ^b   Rapa, A ^a   Bellone, S ^a   Bernasconi, S ^b   Bona, Gianni ^a  

^a UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^b UNIVERSITY OF PARMA   (Italy)

Author keywords

GH deficiency; HESX1 gene; Hypopituitarism; Septo optic dysplasia

Indexed keywords

BUSERELIN; CORTICOTROPIN; CORTISONE ACETATE; GROWTH HORMONE; THYROTROPIN; THYROXINE; TRANSCRIPTION FACTOR HESX1;

ARTICLE; CASE REPORT; CORTICOTROPIN BLOOD LEVEL; EXON; GENETIC ASSOCIATION; GROWTH HORMONE BLOOD LEVEL; GROWTH HORMONE DEFICIENCY; HETEROZYGOSITY; HORMONE RESPONSE; HORMONE SUBSTITUTION; HUMAN; HYPOPITUITARISM; HYPOTHALAMUS HYPOPHYSIS SYSTEM; MALE; MALFORMATION SYNDROME; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; ORCHIDOPEXY; SEPTOOPTIC DYSPLASIA; THYROTROPIN BLOOD LEVEL;

EID: 56249109079     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03346416     Document Type: Article

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