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Growth without Growth Hormone and Similar Dysmorphic Features in Three Patients with Sporadic Combined Pituitary Hormone Deficiencies
Hormone Research, 10/27/09
Gat–Yablonski G et al. – The present study expands the clinical picture of HESX1 mutations by demonstrating that patients heterozygous for Asn125Ser may have a severe endocrinologic and neuroradiologic phenotype and similar dysmorphic features appearing very early in life.
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