Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases

被引:0
作者
Fenollar-Cortes, M. [1 ,2 ]
Lara-Orejas, E. [3 ]
Gonzalez-Meneses, A. [4 ]
Ruibal-Francisco, J. L. [3 ]
Trujillo-Tiebas, M. J. [2 ,5 ]
机构
[1] Hosp Clin San Carlos, Serv & Anal Clin, Secc Genet Clin, Madrid, Spain
[2] Univ Autonoma Madrid, IIS Fdn Jimenez Diaz, Serv Genet, Madrid, Spain
[3] Hosp Infanta Cristina, Dept Pediat, Madrid, Spain
[4] Hosp Univ Virgen del Rocio, Serv Pediat, Unidad Dismorfol, Seville, Spain
[5] Inst Salud Carlos III, CIBERER, Madrid, Spain
来源
ANALES DE PEDIATRIA | 2015年 / 82卷 / 06期
关键词
RMRP;
D O I
10.1016/j.anpedi.2014.12.008
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:436 / 439
页数:4
相关论文
共 32 条
[21]   Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia [J].
de la Fuente, Miguel A. ;
Recher, Mike ;
Rider, Nicholas L. ;
Strauss, Kevin A. ;
Morton, D. Holmes ;
Adair, Margaret ;
Bonilla, Francisco A. ;
Ochs, Hans D. ;
Gelfand, Erwin W. ;
Pessach, Itai M. ;
Walter, Jolan E. ;
King, Alejandra ;
Giliani, Silvia ;
Pai, Sung-Yun ;
Notarangelo, Luigi D. .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2011, 128 (01) :139-146
[22]   Early prenatal presentation of the cartilage-hair hypoplasia/anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia [J].
Hall, Christine M. ;
Liu, Becky ;
Haworth, Andrea ;
Reed, Laura ;
Pryce, Jeremy ;
Mansour, Sahar .
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2021, 64 (03)
[23]   Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene [J].
Narayanan, Dhanya Lakshmi ;
Shukla, Anju ;
Siddesh, Anju Rani ;
Stephen, Joshi ;
Srivastava, Priyanka ;
Mandal, Kausik ;
Phadke, Shubha R. .
INDIAN JOURNAL OF PEDIATRICS, 2016, 83 (09) :1003-1005
[24]   A 30-Year Prospective Follow-Up Study Reveals Risk Factors for Early Death in Cartilage-Hair Hypoplasia [J].
Vakkilainen, Svetlana ;
Taskinen, Mervi ;
Klemetti, Paula ;
Pukkala, Eero ;
Makitie, Outi .
FRONTIERS IN IMMUNOLOGY, 2019, 10
[25]   Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A→G mutation of the untranslated RMRP [J].
Maaret Ridanpää ;
Pertti Sistonen ;
Susanna Rockas ;
David L Rimoin ;
Outi Mäkitie ;
Ilkka Kaitila .
European Journal of Human Genetics, 2002, 10 :439-447
[26]   Worldwide mutation spectrum in cartilage-hair hypoplasia:: ancient founder origin of the major 70A→G mutation of the untranslated RMRP [J].
Ridanpää, M ;
Sistonen, P ;
Rockas, S ;
Rimoin, DL ;
Mäkitie, O ;
Kaitila, I .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 (07) :439-447
[27]   Rmrp Mutation Disrupts Chondrogenesis and Bone Ossification in Zebrafish Model of Cartilage-Hair Hypoplasia via Enhanced Wnt/β-Catenin Signaling [J].
Sun, Xianding ;
Zhang, Ruobin ;
Liu, Mi ;
Chen, Hangang ;
Chen, Liang ;
Luo, Fengtao ;
Zhang, Dali ;
Huang, Junlan ;
Li, Fangfang ;
Ni, Zhenhong ;
Qi, Huabing ;
Su, Nan ;
Jin, Min ;
Yang, Jing ;
Tan, Qiaoyan ;
Du, Xiaolan ;
Chen, Bo ;
Huang, Haiyang ;
Chen, Shuai ;
Yin, Liangjun ;
Xu, Xiaoling ;
Deng, Chuxia ;
Luo, Lingfei ;
Xie, Yangli ;
Chen, Lin .
JOURNAL OF BONE AND MINERAL RESEARCH, 2019, 34 (11) :2101-2116
[28]   Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia [J].
Rogler, Leslie E. ;
Kosmyna, Brian ;
Moskowitz, David ;
Bebawee, Remon ;
Rahimzadeh, Joseph ;
Kutchko, Katrina ;
Laederach, Alain ;
Notarangelo, Luigi D. ;
Giliani, Silvia ;
Bouhassira, Eric ;
Frenette, Paul ;
Roy-Chowdhury, Jayanta ;
Rogler, Charles E. .
HUMAN MOLECULAR GENETICS, 2014, 23 (02) :368-382
[29]   Immunologic and clinical features of 25 Amish patients with RMRP 70 A → G cartilage hair hypoplasia [J].
Rider, Nicholas L. ;
Morton, D. Holmes ;
Puffenberger, Erik ;
Hendrickson, Christine L. ;
Robinson, Donna L. ;
Strauss, Kevin A. .
CLINICAL IMMUNOLOGY, 2009, 131 (01) :119-128
[30]   Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation [J].
Bordon, Victoria ;
Gennery, Andrew R. ;
Slatter, Mary A. ;
Vandecruys, Els ;
Laureys, Genevieve ;
Veys, Paul ;
Waseem, Qasim ;
Friedrich, Wilhelm ;
Wulfraat, Nico M. ;
Scherer, Franziska ;
Cant, Andrew J. ;
Fischer, Alain ;
Cavazzana-Calvo, Marina ;
Bredius, Robbert G. M. ;
Notarangelo, Luigi D. ;
Mazzolari, Evelina ;
Neven, Benedicte ;
Tayfun, Guengoer .
BLOOD, 2010, 116 (01) :27-35