Literature DB >> 1867292

The Noonan-CFC controversy.

G Neri, M Zollino, J F Reynolds.   

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.

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Mesh:

Year:  1991        PMID: 1867292     DOI: 10.1002/ajmg.1320390323

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  8 in total

1.  Noonan syndrome: clinical aspects and molecular pathogenesis.

Authors:  M Tartaglia; G Zampino; B D Gelb
Journal:  Mol Syndromol       Date:  2010-01-15

Review 2.  Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

Authors:  Mary Ella M Pierpont; Pilar L Magoulas; Saleh Adi; Maria Ines Kavamura; Giovanni Neri; Jacqueline Noonan; Elizabeth I Pierpont; Kent Reinker; Amy E Roberts; Suma Shankar; Joseph Sullivan; Melinda Wolford; Brenda Conger; Molly Santa Cruz; Katherine A Rauen
Journal:  Pediatrics       Date:  2014-09-01       Impact factor: 7.124

3.  Cardiofaciocutaneous syndrome.

Authors:  R W Thergaonkar; Vivek Bhat
Journal:  Med J Armed Forces India       Date:  2012-10-23

Review 4.  The cardiofaciocutaneous syndrome.

Authors:  A Roberts; J Allanson; S K Jadico; M I Kavamura; J Noonan; J M Opitz; T Young; G Neri
Journal:  J Med Genet       Date:  2006-07-06       Impact factor: 6.318

Review 5.  Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.

Authors:  Marco Tartaglia; Bruce D Gelb
Journal:  Ann N Y Acad Sci       Date:  2010-10-19       Impact factor: 5.691

6.  Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.

Authors:  Débora Romeo Bertola; Alexandre Costa Pereira; Amanda Salem Brasil; Lilian Maria José Albano; Chong Ae Kim; José Eduardo Krieger
Journal:  J Hum Genet       Date:  2007-04-28       Impact factor: 3.172

Review 7.  Cardiofaciocutaneous syndrome - a longitudinal study of a case over 33 years: case report and review of the literature.

Authors:  Maria Claudia Jurcă; Oana Alexandra Iuhas; Maria Puiu; Adela Chiriţă-Emandi; Nicoleta Ioana Andreescu; Codruţa Diana Petcheşi; Alexandru Daniel Jurcă; Ioan Magyar; Sânziana Iulia Jurcă; Kinga Kozma; Emilia Maria Severin; Marius Bembea
Journal:  Rom J Morphol Embryol       Date:  2021 Apr-Jun       Impact factor: 1.033

8.  Cardiofaciocutaneous syndrome: a rare entity.

Authors:  S Pavithra; H Mallya; G S Pai
Journal:  Indian J Dermatol       Date:  2012-07       Impact factor: 1.494

  8 in total

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