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Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
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作者 yunqing Ren Jipeng Liu +6 位作者 Dianyi Yao Huixia Hua Xiaoxuan Guo Huatuo Dai Nan Dang Yan Huang dianhe yu 《Chinese Medical Journal》 SCIE CAS CSCD 2022年第12期1503-1505,共3页
To the Editor:Hypotrichosis with juvenile macular dystrophy(HJMD,OMIM:601553)is a rare autosomal recessive disorder characterized by short and sparse hair,progressive macular degeneration,decreased visual acuity,andev... To the Editor:Hypotrichosis with juvenile macular dystrophy(HJMD,OMIM:601553)is a rare autosomal recessive disorder characterized by short and sparse hair,progressive macular degeneration,decreased visual acuity,andevenblindness in early life. 展开更多
关键词 visual DYSTROPHY COMPOUND
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