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Items: 1 to 20 of 87

1.

Cardiofaciocutaneous syndrome with new ectodermal manifestations.

Turnpenny PD, Dean JC, Auchterlonie IA, Johnston AW.

J Med Genet. 1992 Jun;29(6):428-9.

2.

Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study.

Manci EA, Martinez JE, Horenstein MG, Gardner TM, Ahmed A, Mancao MC, Gremse DA, Gardner DM, Nimityongskul P, Maertens P, Riddick L, Kavamura MI.

Am J Med Genet A. 2005 Aug 15;137(1):1-8.

PMID:
16007634
3.

Cardiofaciocutaneous (CFC) syndrome.

Schepis C, Greco D, Romano C.

Australas J Dermatol. 1999 May;40(2):111-3.

PMID:
10333626
4.

Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation.

Bertola DR, Pereira AC, de Oliveira PS, Kim CA, Krieger JE.

Am J Med Genet A. 2004 Nov 1;130A(4):378-83.

PMID:
15384080
5.

CFC index for the diagnosis of cardiofaciocutaneous syndrome.

Kavamura MI, Peres CA, Alchorne MM, Brunoni D.

Am J Med Genet. 2002 Sep 15;112(1):12-6. Review.

PMID:
12239713
6.
7.

Zunich neuroectodermal syndrome: migratory ichthyosiform dermatosis, colobomas, and other abnormalities.

Tinschert S, Anton-Lamprecht I, Albrecht-Nebe H, Audring H.

Pediatr Dermatol. 1996 Sep-Oct;13(5):363-71.

PMID:
8893234
8.

[A case of EEC (ectrodactyly, ectodermal dysplasia, and cleft lip) syndrome].

Nakamura K, Yoshimasu H, Komuro C, Kobayashi A, Moon K, Sato M, Yamashiro M, Arai N, Shioiri S, Amagasa T.

Kokubyo Gakkai Zasshi. 1991 Dec;58(4):718-24. Japanese.

PMID:
1795140
9.

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency.

Aeby A, Sznajer Y, Cavé H, Rebuffat E, Van Coster R, Rigal O, Van Bogaert P.

J Inherit Metab Dis. 2007 Oct;30(5):827. Epub 2007 Aug 20.

PMID:
17703371
10.

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 MC, Coeslier-Dieux A, Vincent-Delorme C, Tabayashi K, Aoki M, Kobayashi T, Guliyeva A, Kure S, Matsubara Y.

J Hum Genet. 2008;53(9):834-41. doi: 10.1007/s10038-008-0320-0. Epub 2008 Jul 24.

PMID:
18651097
11.
12.

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.

Kavamura MI, Pomponi MG, Zollino M, Lecce R, Murdolo M, Brunoni D, Alchorne MM, Opitz JM, Neri G.

Eur J Hum Genet. 2003 Jan;11(1):64-8.

13.

The cardio-facio-cutaneous (CFC) syndrome--two possible new cases and review of the literature.

Krajewska-Walasek M, Chrzanowska K, Jastrzbska M.

Clin Dysmorphol. 1996 Jan;5(1):65-72.

PMID:
8867662
14.

CFC syndrome: a syndrome distinct from Noonan syndrome.

Verloes A, Le Merrer M, Soyeur D, Kaplan J, Pangalos C, Rigo J, Briard ML.

Ann Genet. 1988;31(4):230-4.

PMID:
3265306
15.

The CFC syndrome--report of the first two cases outside the United States.

Neri G, Sabatino G, Bertini E, Genuardi M.

Am J Med Genet. 1987 Aug;27(4):767-71.

PMID:
3425595
16.

Eccrine squamous metaplasia and periadnexal granulomas: new cutaneous histopathologic findings in cardiofaciocutaneous syndrome.

Jeffries ML, Aleck KA, Bernert RA, Hansen RC.

Pediatr Dermatol. 2010 May-Jun;27(3):274-8. doi: 10.1111/j.1525-1470.2009.00982.x. Epub 2009 Oct 4.

PMID:
19804494
17.

The cardio-facio-cutaneous syndrome: a manifestation of the Noonan syndrome?

Ward KA, Moss C, McKeown C.

Br J Dermatol. 1994 Aug;131(2):270-4.

PMID:
7917994
18.

Cardio-facio-cutaneous (CFC) syndrome: report of two patients without hyperkeratotic skin lesions.

Matsuda Y, Murano I, Kondoh O, Matsuo K, Kajii T.

Am J Med Genet. 1991 May 1;39(2):144-7.

PMID:
1842204
19.

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.

Ion A, Tartaglia M, Song X, Kalidas K, van der Burgt I, Shaw AC, Ming JE, Zampino G, Zackai EH, Dean JC, Somer M, Parenti G, Crosby AH, Patton MA, Gelb BD, Jeffery S.

Hum Genet. 2002 Oct;111(4-5):421-7. Epub 2002 Aug 24. Review.

PMID:
12384786
20.

Progressive symmetric erythro-keratosis associated with oligodontia, severe caries, disturbed hair growth and ectopic nail: a new syndrome?

Bongiorno MR, Aricò M.

Dermatology. 2008;217(4):347-50. doi: 10.1159/000155648. Epub 2008 Sep 18.

PMID:
18799882

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