瓦尔登堡隐性无眼综合征
Waardenburg's recessive anophthalmia syndrome.
作者信息
Traboulsi E I, Nasr A M, Fahd S D, Jabbour N M, Der Kaloustian V M
出版信息
Ophthalmic Paediatr Genet. 1984 Apr;4(1):13-8. doi: 10.3109/13816818409009888.
PMID:6549566
Abstract
A family with a rare form of autosomal recessive anophthalmia, syndactyly and multiple congenital deformities is reported. The authors propose that this be recognized as a well defined autosomal recessive syndrome.
摘要
报道了一个患有罕见的常染色体隐性无眼畸形、并指畸形和多种先天性畸形的家族。作者建议将其认定为一种明确的常染色体隐性综合征。
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