Molecular and cytogenetic evidence that cardiofaciocutaneous (CFC) syndrome is distinct from Noonan syndrome (NS)and that it's locus is not in the chromosome region 12q21.2q22. | ORKG Ask

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KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis

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Item does not contain fulltextCFC (cardiofaciocutaneous) syndrome (MIM 115150) has been considered b...

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Malaquias, Alexsandra C.
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January 2012

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Musante, Luciana
Kehl, Hans G.
Majewski, Frank
Meinecke, Peter
Schweiger, Susann
Gillessen-Kaesbach, Gabriele
Wieczorek, Dagmar
Hinkel, Georg K.
Tinschert, Siegrid
Hoeltzenbein, Maria
Ropers, Hans-Hilger
Kalscheuer, Vera M.

January 2003

Noonan syndrome (NS) is a relatively common, but genetically heterogeneous autosomal dominant malfor...

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

Narumi, Y.
Aoki, Y.
Niihori, T.
Sakurai, M.
Cavé, H.
Verloes, A.
Nishio, K.
Ohashi, H.
Kurosawa, K.
Okamoto, N.
Kawame, H.
Mizuno, S.
Kondoh, T.
Addor, M.C.
Coeslier-Dieux, A.
Vincent-Delorme, C.
Tabayashi, K.
Aoki, M.
Kobayashi, T.
Guliyeva, A.
Kure, S.
Matsubara, Y.

January 2008

Noonan syndrome (NS) and cardio-facio-cutaneous (CFC) syndrome are autosomal dominant disorders char...

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

Zenker, M.
Horn, D.
Wieczorek, D.
Allanson, J.
Pauli, S.
Burgt, I. van der
Doerr, H.G.
Gaspar, H.
Hofbeck, M.
Gillessen-Kaesbach, G.
Koch, A.
Meinecke, P.
Mundlos, S.
Nowka, A.
Rauch, A.
Reif, S.
Schnakenburg, C. von
Seidel, H.
Wehner, L.E.
Zweier, C.
Bauhuber, S.
Matejas, V.
Kratz, C.P.
Thomas, C.
Kutsche, K.

January 2007

BACKGROUND: Heterozygous gain-of-function mutations in various genes encoding proteins of the Ras-MA...

Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

Pierpont, Mary Ella M
Magoulas, Pilar L
Adi, Saleh
Kavamura, Maria Ines
Neri, Giovanni
Noonan, Jacqueline
Pierpont, Elizabeth I
Reinker, Kent
Roberts, Amy E
Shankar, Suma
Sullivan, Joseph
Wolford, Melinda
Conger, Brenda
Santa Cruz, Molly
Rauen, Katherine A

October 2014

Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in...

KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis

Brasil, Amanda S.
Malaquias, Alexsandra C.
Kim, Chong A.
Krieger, Jose Eduardo
Jorge, Alexander A. L.
Pereira, Alexandre C.
Bertola, Debora R.

January 2012

Noonan syndrome (NS) and Noonan-related disorders [cardio-facio-cutaneous (CFC), Costello, Noonan sy...