Evolving combined pituitary hormone deficiency (CPHD) and ectopic posterior pituitary (EPP) is associated with a novel homozygous missense mutation (I26T) in the HESX1 repressor domain
L. R. Carvalho K. S Woods; A. L Zamparini; B. B Mendonça; J. M Brickman; I. J Arnhold; M. T Dattani; Annual Meeting of the European Society for Paediatric Endocrinology (ESPE (41. 2002 Madrid, Espanha)
Hormone Research Basel v. 58, supp. 2, p. 95, res. P2-333, 2002
Basel 2002
Localização:
FM - Fac. Medicina
(BCSEP 2002 337 ) e outros locais(Acessar)
Homozygous mutations in the promoter region of growth hormone gene (GH1) in 3 siblings is associated with isolated growth hormone deficiency (IGHD)
Luciani Carvalho Alexander Jorge; Regina M Martin; Marcela C Franca; Berenice B Mendonça; Everlayny F Costalongo; Luciana R Montenegro; Ivo J. P Arnhold; European Society for Paediatric Endocrinology (ESPE) 2008) Turquia (47.
Hormone Research Basel v. 70, suppl. 1, p. 20, res. P1-d3-301, 2008
Basel 2008
Localização:
FM - Fac. Medicina
(BCSEP 219 2008 )(Acessar)