Endocrine Abstracts

LHX3 is a LIM homeodomain transcription factor necessary for proper development of the pituitary and central nervous system. Patients with mutations in coding regions of the LHX3 gene have complex syndromes including combined pituitary hormone deficiency and nervous system defects resulting in symptoms such as dwarfism, thyroid insufficiency, infertility, and developmental delay. Although previous studies from our group and others have identified promoter and intronic elements...