Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation.
作者信息
Gripp K W, Nicholson L, Scott C I
机构信息
Department of Pediatrics, Thomas-Jefferson University, Philadelphia, Pennsylvania, USA.
出版信息
Am J Med Genet. 1996 Feb 2;61(4):382-6. doi: 10.1002/(SICI)1096-8628(19960202)61:4<382::AID-AJMG14>3.0.CO;2-O.
Abstract
We describe a previously unrecognized syndrome in two unrelated patients with congenital cataracts, sensorineural deafness, distinctive facial appearance, skeletal changes, postnatal short stature, and mental retardation.
摘要
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