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Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome

Wu, SJ; Yuan, ZS; Sun, ZX; Yao, FX; Sui, RF

Sui, RF (通讯作者),Peking Union Med Coll Hosp, Dept Ophthalmol, 1 Shuai Fu Yuan, Beijing 100730, Peoples R China.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (3): 948

Abstract

Thiamine-responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder, inherited by the defective SLC19A2 gene that encodes a hi......

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