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J Med Genet. 1993 May;30(5):425-6.

Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?

Author information

1
Centre for Human Genetics, Li├Ęge University, CHU Sart Tilman, Belgium.

Abstract

Three children have been reported with a combination of iris coloboma, ptosis, hypertelorism, and growth and mental retardation with possible autosomal recessive inheritance. We report a single case whose clinical features encompass this syndrome and Noonan syndrome, and discuss the possible interpretations of this complex phenotype.

PMID:
8320709
PMCID:
PMC1016384
DOI:
10.1136/jmg.30.5.425
[Indexed for MEDLINE]
Free PMC Article

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