doi: 10.1002/(SICI)1096-8628(19960202)61:4<382::AID-AJMG14>3.0.CO;2-O.
Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation
Affiliations
- PMID: 8834052
- DOI: 10.1002/(SICI)1096-8628(19960202)61:4<382::AID-AJMG14>3.0.CO;2-O
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Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation
Am J Med Genet.
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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.
Comment in
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Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation.Am J Med Genet. 1997 Jun 13;70(3):333-5. doi: 10.1002/(sici)1096-8628(19970613)70:3<333::aid-ajmg24>3.0.co;2-l. Am J Med Genet. 1997. PMID: 9188678 No abstract available.
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