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Am J Med Genet. 1991 Jun 1;39(3):367-70.

The Noonan-CFC controversy.

Abstract

The Noonan syndrome and the cardio-faciocutaneous (CFC) syndrome have been described as phenotypically and genetically distinct entities. However, the resemblance between them led some authors to question the validity of this separation. We review available clinical evidence to support the opposite view, namely, that the Noonan and CFC syndromes are indeed distinct and separate conditions, both falling within the broad and causally heterogeneous spectrum of the Noonan/congenital lymphedema phenotype.

PMID:
1867292
DOI:
10.1002/ajmg.1320390323
[Indexed for MEDLINE]

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