A Novel Missense Mutation (P366T) of the LHX4 Gene Causes Severe Combined Pituitary Hormone Deficiency with Pituitary Hypoplasia, Ectopic Posterior Lobe and a Poorly Developed Sella Turcica
Author:
Affiliation:
1. Department of Pediatrics, Hokkaido University School of Medicine
2. Department of Neonatology, Sapporo City Hospital
3. Department of Pediatrics, Asahikawa Medical College
Publisher
Japan Endocrine Society
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
http://www.jstage.jst.go.jp/article/endocrj/54/4/54_4_637/_pdf
Reference24 articles.
1. 1. Cushman LJ, Showalter AD, Rhodes SJ (2002) Genetic defects in the development and function of the anterior pituitary gland. Ann Med 34: 179-191.
2. 2. Amselem S (2002) Current approaches for deciphering the molecular basis of combined anterior pituitary hormone deficiency in humans. Mol Cell Endocrinol 197: 47-56.
3. 3. Ikeda H, Suzuki J, Sasano N, Niizuma H (1988) The development of and morphogenesis of the human pituitary gland. Anat Embryol 178: 327-336.
4. Early steps in pituitary organogenesis
5. Mutation of the POU-Specific Domain of Pit-1 and Hypopituitarism Without Pituitary Hypoplasia
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