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Article

Ritscher-Schinzel (3C) syndrome: documentation of the phenotype.

American journal of medical genetics - 11 Feb 1997

Kosaki K, Curry C J, Roeder E, Jones K L

Abstract excerpt

Ritscher-Schinzel syndrome or 3C (craniocerebello-cardiac) syndrome is characterized by cardiac defects, cerebellar vermis hypoplasia, and cranial defects. Nineteen cases were reported previously; however, the full spectrum of this disorder has not been determined. We have evaluated two unrelated males with this condition. Both had defects of the endocardial cushion and vermis hypoplasia with hypotonia. In...

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Source

Identifiers

PMID: 9021015
DOI: 10.1002/(sici)1096-8628(19970211)68:4<421::aid-ajmg10>3.0.co;2-u

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