Cardio-facio-cutaneous (CFC) syndrome - a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome-Reference-Cited by-同舟云学术

Cardio-facio-cutaneous (CFC) syndrome - a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome

Published:2008-06-28 Issue:1 Volume:52 Page:37-46
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Wieczorek Dagmar,Majewski Frank,Giliessen-Kaesbach Gabriele

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1997.tb02512.x/fullpdf

Reference57 articles.

1. Neurofibromatosis with fully expressed Noonan syndrome;Abuelo;Am J Med Genet,1988

2. Cardiofaciocutaneous syndrome;Ades;Clin Dysmorphol,1992

3. Noonan syndrome: the changing phenotype;Allanson;Am J Med Genet,1985

4. Noonan phenotype associated with neurofibromatosis;Allanson;Am J Med Genet,1985

5. Noonan syndrome;Allanson;J Med Genet,1987

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