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：

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

引用

页数：1

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