A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism
Castinetti, F; Saveanu, A; Reynaud, R; Quentien, M H; Buffin, A; Brauner, R; Kaffel, N; Albarel, F; Guedj, A M; mohamed, elkholy; Amin, M; Enjalbert, A; Barlier, A; Brue, T;
Abstract
LHX4 is a LIM homeodomain transcription factor involved in pituitary ontogenesis. Only a few heterozygous LHX4 mutations have been reported to be responsible for congenital pituitary hormone deficiency.
Other data
| Title | A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism | Authors | Castinetti, F; Saveanu, A; Reynaud, R; Quentien, M H; Buffin, A; Brauner, R; Kaffel, N; Albarel, F; Guedj, A M; mohamed, elkholy ; Amin, M; Enjalbert, A; Barlier, A; Brue, T | Keywords | PITUITARY-HORMONE DEFICIENCY; LIM-HOMEOBOX GENE; TRANSCRIPTION FACTOR; MAGNETIC-RESONANCE; HOMEODOMAIN; PROP1; EXPRESSION; DOMAIN; LOBE; ENLARGEMENT | Issue Date | Jul-2008 | Publisher | ENDOCRINE SOC | Journal | The Journal of clinical endocrinology and metabolism | ISSN | 0021-972X | DOI | 10.1210/jc.2007-2389 | PubMed ID | 18445675 | Scopus ID | 2-s2.0-47549088662 | Web of science ID | WOS:000257513700057 |
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