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Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation

✍ Scribed by Gripp, Karen W.; Nicholson, Linda; Scott, Charles I.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 21 KB
Volume: 61
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960202)61:4<382::aid-ajmg14>3.0.co;2-o

No coin nor oath required. For personal study only.

✦ Synopsis

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.

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