A new case with a splicing PIEZO2 mutation causing distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects

被引：0
|
作者：
Almeida, Pedro M. [1 ,2 ]
Simoes, Maria Jose [3 ]
Sa, Joaquim [1 ,5 ]
Pereira, Janet [4 ]
Ribeiro, Carolina [5 ]
Froufe, Hugo [3 ]
Egas, Conceicao [3 ,6 ]
Pinto, Sofia [7 ]
Correia, Catarina [7 ]
Saraiva, Jorge M. [1 ,8 ]
Ramos, Fabiana [1 ]
机构：
[1] Ctr Hosp & Univ Coimbra, Med Genet Unit, Hosp Pediat, Coimbra, Portugal
[2] Univ Beira Interior, Fac Hlth Sci, Covilha, Portugal
[3] Biocant, Next Generat Sequencing Unit, Genoinseq, Cantanhede, Portugal
[4] Ctr Hosp & Univ Coimbra, Dept Hematol, Coimbra, Portugal
[5] Univ Coimbra, Med Genet Inst, Fac Med, UC Genom, Coimbra, Portugal
[6] Univ Coimbra, Ctr Neurosci & Cell Biol, Coimbra, Portugal
[7] Coimbra Genom, Cantanhede, Portugal
[8] Univ Coimbra, Univ Clin Pediat, Fac Med, Coimbra, Portugal
来源：
MEDICINE | 2020年 / 99卷 / 09期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
P84
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页数：1
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