CFC SYNDROME - A SYNDROME DISTINCT FROM NOONAN SYNDROME

被引：0
|
作者：
VERLOES, A
LEMERRER, M
SOYEUR, D
KAPLAN, J
PANGALOS, C
RIGO, J
BRIARD, ML
机构：
[1] HOP NECKER ENFANTS MALAD,INSERM,U12,RECH GENET MED CLIN,F-75743 PARIS 15,FRANCE
[2] HOP NECKER ENFANTS MALAD,INSERM,U12,UNITE RECH GENET MED,F-75743 PARIS 15,FRANCE
[3] CHU SART TILMAN,SERV CARDIOL,LIEGE,BELGIUM
[4] HOP NECKER ENFANTS MALAD,INST PROGENESE,F-75743 PARIS 15,FRANCE
[5] HOP NECKER ENFANTS MALAD,CHAIRE GENET FONDAMENTALE,F-75743 PARIS 15,FRANCE
[6] HOP CITADELLE,CTR NEONATAL,LIEGE,BELGIUM
来源：
ANNALES DE GENETIQUE | 1988年 / 31卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：230 / 234
页数：5
相关论文
共 50 条
  • [1] Are cardio-facio-cutaneous syndrome and noonan syndrome distinct? A case of CFC offspring of a mother with Noonan syndrome
    Leichtman, LG
    CLINICAL DYSMORPHOLOGY, 1996, 5 (01) : 61 - 64
  • [2] THE CARDIO-FACIO-CUTANEOUS (CFC) SYNDROME AND NOONAN SYNDROME - ARE THEY THE SAME
    FRYER, AE
    HOLT, PJ
    HUGHES, HE
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 38 (04): : 548 - 551
  • [3] Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
    Narumi, Yoko
    Aoki, Yoko
    Niihori, Tetsuya
    Sakurai, Masahiro
    Cave, Helene
    Verloes, Alain
    Nishio, Kimio
    Ohashi, Hirofumi
    Kurosawa, Kenji
    Okamoto, Nobuhiko
    Kawame, Hiroshi
    Mizuno, Seiji
    Kondoh, Tatsuro
    Addor, Marie-Claude
    Coeslier-Dieux, Anne
    Vincent-Delorme, Catherine
    Tabayashi, Koichi
    Aoki, Masashi
    Kobayashi, Tomoko
    Guliyeva, Afag
    Kure, Shigeo
    Matsubara, Yoichi
    JOURNAL OF HUMAN GENETICS, 2008, 53 (09) : 834 - 841
  • [4] Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
    Yoko Narumi
    Yoko Aoki
    Tetsuya Niihori
    Masahiro Sakurai
    Hélène Cavé
    Alain Verloes
    Kimio Nishio
    Hirofumi Ohashi
    Kenji Kurosawa
    Nobuhiko Okamoto
    Hiroshi Kawame
    Seiji Mizuno
    Tatsuro Kondoh
    Marie-Claude Addor
    Anne Coeslier-Dieux
    Catherine Vincent-Delorme
    Koichi Tabayashi
    Masashi Aoki
    Tomoko Kobayashi
    Afag Guliyeva
    Shigeo Kure
    Yoichi Matsubara
    Journal of Human Genetics, 2008, 53 : 834 - 841
  • [5] Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?
    Bertola, DR
    Kim, CA
    Pereira, AC
    Mota, GFA
    Krieger, JE
    Vieira, IC
    Valente, M
    Loreto, MR
    Magalhaes, RP
    Gonzalez, CH
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 98 (03): : 230 - 234
  • [6] CFC SYNDROME IN A MOTHER AND A DAUGHTER - A SEPARATE SYNDROME FROM THE NOONANS SYNDROME
    BLANCHETBARDON, C
    PUPPIN, D
    FISCHER, R
    DUBERTRET, L
    ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE, 1991, 118 (11): : 778 - 780
  • [7] 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.
    Kavamura, MI
    Zollino, M
    Pomponi, MG
    Lecce, R
    Murdolo, M
    Brunoni, D
    Opitz, JM
    Neri, G
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 211 - 211
  • [8] Retinitis pigmentosa in a young man with Noonan syndrome: Further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity?
    Lorenzetti, ME
    Fryns, JP
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 65 (02): : 97 - 99
  • [9] Noonan syndrome
    Roberts, Amy E.
    Allanson, Judith E.
    Tartaglia, Marco
    Gelb, Bruce D.
    LANCET, 2013, 381 (9863): : 333 - 342
  • [10] NOONAN SYNDROME
    DAOUD, MS
    DAHL, PR
    SU, WPD
    SEMINARS IN DERMATOLOGY, 1995, 14 (02): : 140 - 144
12345