Open AccessA Novel Mutation in the LIM Homeobox 3 Gene Is Responsible for Combined Pituitary Hormone Deficiency, Hearing Impairment, and Vertebral Malformations
Author(s) -
Berit Kriström,
Anna-Maija Zdunek,
Anders Rydh,
Håkan Jonsson,
Petra Sehlin,
Stefan Andersson Escher
Publication year - 2009
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2008-0325
Subject(s) - homeobox , mutation , gene , biology , phenotype , genetics , scoliosis , anatomy , transcription factor
The LIM homeobox 3 (LHX3) LIM-homeodomain transcription factor gene, found in both man and mouse, is required for development of the pituitary and motor neurons, and is also expressed in the auditory system.
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