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A homozygous TPO gene duplication (c. 1184_1187dup4) causes congenital hypothyroidism in three siblings born to a consanguineous family
Cangül, Hakan; Aydın, Banu; Baş, Firdevs (Georg Thieme Verlag, 2015)Congenital hypothyroidism (CH) is the most common neonatal endocrine disease, and germ-line mutations in the TPO gene cause the inherited form of the disease. Our aim in this study was to determine the genetic basis of ...