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A Novel Mutation (V101A) of the LHX4 Gene in a Japanese Patient with Combined Pituitary Hormone Deficiency
Experimental and Clinical Endocrinology & Diabetes, 11/02/09
Tajima T et al. – LHX4, a LIM–homeodomain transcription factor, is required for development of the pituitary and nervous system. The objective of the study was to clarify the molecular basis of a Japanese patient of CPHD with a small anterior pituitary and an ectopic posterior pituitary. The results identify a novel loss of function mutation of the LHX4 gene in a Japanese patient with CPHD.
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