Clinical and Genetic Characteristics of Noonan Syndrome and Noonan-like Diseases

被引：0
|
作者：
A. A. Orlova
E. L. Dadali
A. V. Polyakov
机构：
[1] Research Center for Medical Genetics,
来源：
Russian Journal of Genetics | 2020年 / 56卷
关键词：
Noonan syndrome; LEOPARD syndrome; rasopathies; RAS-MAPK signaling pathway; molecular genetic diagnosis;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：540 / 547
页数：7
相关论文
共 50 条
  • [21] Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway
    Malaquias, Alexsandra C.
    Brasil, Amanda S.
    Pereira, Alexandre C.
    Arnhold, Ivo J. P.
    Mendonca, Berenice B.
    Bertola, Debora R.
    Jorge, Alexander A. L.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (11) : 2700 - 2706
  • [22] Noonan syndrome and Noonan-like syndrome with loose anagen hair: rare phenotypes may emerge during follow-up
    Liu, Ziqin
    Lai, Jianming
    Song, Fuying
    TRANSLATIONAL PEDIATRICS, 2024, 13 (07) : 1161 - 1168
  • [23] JUVENILE MYELOMONOCITIC LEUKEMIA IN PATIENTS WITH NOONAN SYNDROME AND NOONAN-LIKE SYNDROMES: EXPERIENCE OF THE SPANISH YOUTH MYELOMONOCITIC LEUKEMIA REGISTRATION
    Arques Martinez, L.
    Gonzalez Forster, E.
    Ruiz Llobet, A.
    Uria Oficialdegui, M. L.
    Dapena Diaz, J. L.
    Galera Minarro, A.
    Adan Pedroso, R.
    Martinez-Monseny, A. F.
    Llavador Ros, M.
    Amigo Moreno, R.
    Diaz de Heredia, C.
    Camos Guijosa, M.
    Senent Peris, L.
    Cervera, J.
    Catala Temprano, A.
    HAEMATOLOGICA, 2019, 104 : 85 - 85
  • [24] Noonan-like features with loose anagen hair-A new genetic link?
    Hare, Holly
    Holman, Jennifer
    Dyer, Jon
    JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2009, 60 (03) : AB97 - AB97
  • [25] THE CRANIOCARDIOSKELETAL SYNDROME AND THE NOONAN-LIKE SHORT STATURE SYNDROME ARE POSSIBLY THE SAME ENTITY - REPLY
    BARAITSER, M
    PATTON, MA
    JOURNAL OF MEDICAL GENETICS, 1987, 24 (08) : 511 - 511
  • [26] Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair
    Lo, Fu-Sung
    Wang, Chao-Jan
    Wong, Mun-Ching
    Lee, Ni-Chung
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (06) : 1285 - 1288
  • [27] Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism
    Jafarov, T
    Ferimazova, N
    Reichenberger, E
    CLINICAL GENETICS, 2005, 68 (02) : 190 - 191
  • [28] UNKNOWN SYNDROME - NOONAN-LIKE CRANIOFACIAL FEATURES, DIGITAL ANOMALIES, AND PREMATURE BIRTH
    SHEPHERD, RC
    GOUDIE, DR
    TOLMIE, JL
    JOURNAL OF MEDICAL GENETICS, 1989, 26 (07) : 470 - 472
  • [29] Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation
    Capalbo, Donatella
    Scala, Maria Giuseppa
    Melis, Daniela
    Minopoli, Giorgia
    Improda, Nicola
    Palamaro, Loredana
    Pignata, Claudio
    Salerno, Mariacarolina
    ITALIAN JOURNAL OF PEDIATRICS, 2013, 38
  • [30] Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation
    Donatella Capalbo
    Maria Giuseppa Scala
    Daniela Melis
    Giorgia Minopoli
    Nicola Improda
    Loredana Palamaro
    Claudio Pignata
    Mariacarolina Salerno
    Italian Journal of Pediatrics, 38
12345