Genetically Determined Central Hypothyroidism
نویسندگان
چکیده
منابع مشابه
A genetically determined condition?
Papadatos, C., Alexiou, D., Nicolopoulos, D., Mikropoulos, H., and Hadzigeorgiou, E. (1974). Archives of Disease in Childhood, 49, 927. Congenital hypoplasia of depressor anguli oris muscle: a genetically determined condition? The frequency of hypoplasia of the depressor anguli oris muscle was 37 cases among 4 530 consecutive births (8 -2 %). Diagnosis was based on clinical and electromyographi...
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We observed a male newborn with bilateral nystagmus and central hypothyroidism without hypoprolactinemia due to a deletion of chromosome band Xq26.1q26.2, containing FRMD7 and IGSF1. These two loss-of function mutations are known to cause, respectively, congenital nystagmus and the ensemble of central hypothyroidism, hypoprolactinemia and testicular enlargement. These latter two features may no...
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ژورنال
عنوان ژورنال: Journal of Genetic Syndromes & Gene Therapy
سال: 2013
ISSN: 2157-7412
DOI: 10.4172/2157-7412.1000172