Combined pituitary hormone deficiency

[1]. Daniel Diaczok, et al. A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. J Clin Endocrinol Metab. 2008 Nov;93(11):4351-9. [Content Brief]

[2]. Eline A Verberne, et al. Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency. Am J Med Genet A. 2020 Aug;182(8):1952-1956. [Content Brief]

[3]. Francesca De Rienzo, et al. Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort. Clin Endocrinol (Oxf). 2015 Dec;83(6):849-60. [Content Brief]

[4]. James P G Turton, et al. Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. J Clin Endocrinol Metab. 2005 Aug;90(8):4762-70. [Content Brief]

[5]. K Machinis, et al. Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. Am J Hum Genet. 2001 Nov;69(5):961-8. [Content Brief]

[6]. P Q Thomas, et al. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Hum Mol Genet. 2001 Jan 1;10(1):39-45. [Content Brief]

[7]. Roland W Pfaeffle, et al. Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation. J Clin Endocrinol Metab. 2007 May;92(5):1909-19. [Content Brief]

[8]. S Vallette-Kasic, et al. PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency. J Clin Endocrinol Metab. 2001 Sep;86(9):4529-35. [Content Brief]