Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome

被引：10
|
作者：
Ebrahimi-Fakhari, Darius [1 ]
Freiman, Eli [2 ]
Wojcik, Monica H. [3 ]
Krone, Katie [4 ]
Casey, Alicia [4 ]
Winn, Ariel S. [2 ]
Roberts, Amy E. [5 ]
Harper, Beth D. [2 ]
机构：
[1] Harvard Med Sch, Boston Childrens Hosp, Div Gen Pediat, Dept Neurol, Boston, MA 02115 USA
[2] Harvard Med Sch, Boston Childrens Hosp, Div Gen Pediat, Boston, MA USA
[3] Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Div Newborn Med, Boston, MA USA
[4] Harvard Med Sch, Boston Childrens Hosp, Div Pulm & Resp Dis, Boston, MA USA
[5] Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Dept Cardiol, Boston, MA USA
来源：
JOURNAL OF PEDIATRICS | 2017年 / 185卷
基金：
美国国家卫生研究院;
关键词：
GENOTYPE-PHENOTYPE CORRELATION; GENE ANALYSIS; PTPN11; GENE; CHILDREN; LEUKEMIA; INFANTS;
D O I：
10.1016/j.jpeds.2017.02.042
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
[No abstract available]
引用
收藏
页码：248 / +
页数：2
相关论文
共 50 条
  • [1] Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms
    Gao, Xue
    Huang, Sha-Sha
    Qiu, Shi-Wei
    Su, Yu
    Wang, Wei-Qian
    Xu, Hui-Yan
    Xu, Jin-Cao
    Kang, Dong-Yang
    Dai, Pu
    Yuan, Yong-Yi
    [J]. JOURNAL OF MEDICAL GENETICS, 2021, 58 (07) : 465 - 474
  • [2] Recurrent ganglioneuroma in PTPN11-associated Noonan syndrome: A case report and literature review
    Morales-Rosado, Joel A.
    Singh, Herchran
    Olson, Rory J.
    Larsen, Brandon T.
    Hager, Megan M.
    Klee, Eric W.
    Dhamija, Radhika
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021, 185 (06) : 1883 - 1887
  • [3] Tyrosyl phosphorylation of PZR promotes hypertrophic cardiomyopathy in PTPN11-associated Noonan syndrome with multiple lentigines
    Yi, Jae-Sung
    Perla, Sravan
    Enyenihi, Liz
    Bennett, Anton M.
    [J]. JCI INSIGHT, 2020, 5 (15)
  • [4] Congenital heart defects in Noonan syndrome and PTPN11 muta□onCongenital heart defects in Noonan syndrome and PTPN11 mutation
    Popa, Laura Claudia
    Andreescu, Nicoleta
    Farcas, Simona
    Chirita-Emandi, Adela
    Puiu, Maria
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 185 - 186
  • [5] Noonan syndrome associated with unilateral iris coloboma and congenital chylothorax in an infant
    Carvalho, DR
    Alves, VVB
    Minaré-Junior, A
    Peres, LC
    Pina-Neto, JM
    Ramos, ES
    [J]. CLINICAL DYSMORPHOLOGY, 2003, 12 (02) : 143 - 144
  • [6] Mutations in the PTPN11 cause cardiac defects associated with Noonan syndrome
    Kamisago, M
    Hirayama, K
    Kato, T
    Imamura, S
    Joh, K
    Ando, M
    Takao, A
    Momma, K
    Matsuoka, R
    [J]. CIRCULATION, 2002, 106 (19) : 289 - 289
  • [7] Transient abnormal lymphomyelopoiesis in a newborn with PTPN11 mutation associated Noonan syndrome
    Abdelghani, Eman
    Mueller, Clifford
    Liu, Huifei
    [J]. CYTOMETRY PART B-CLINICAL CYTOMETRY, 2022, 102 (05) : 409 - 411
  • [8] Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series
    Alessia Pugliese
    Adela Della Marina
    Eduardo de Paula Estephan
    Edmar Zanoteli
    Andreas Roos
    Ulrike Schara-Schmidt
    Andreas Hentschel
    Yoshiteru Azuma
    Ana Töpf
    Rachel Thompson
    Kiran Polavarapu
    Hanns Lochmüller
    [J]. Journal of Neurology, 2024, 271 : 1331 - 1341
  • [9] Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series
    Pugliese, Alessia
    Della Marina, Adela
    Estephan, Eduardo de Paula
    Zanoteli, Edmar
    Roos, Andreas
    Schara-Schmidt, Ulrike
    Hentschel, Andreas
    Azuma, Yoshiteru
    Topf, Ana
    Thompson, Rachel
    Polavarapu, Kiran
    Lochmueller, Hanns
    [J]. JOURNAL OF NEUROLOGY, 2024, 271 (03) : 1331 - 1341
  • [10] A new PTPN11 mutation in juvenile myelomonocytic leukaemia associated with Noonan syndrome
    Giovannini, L
    Cavé, H
    Ferrero-Vacher, C
    Boutte, P
    Sirvent, N
    [J]. ACTA PAEDIATRICA, 2005, 94 (05) : 636 - 637
12345