BIALLELIC DYNC2H1 SPLICING VARIANTS CAUSING PRENATAL SHORT-RIB POLYDACTYLY SYNDROME: CLINICAL, RADIOLOGICAL, AND HISTOPATHOLOGIC FEATURES

被引：0

作者：

Quental, Rita ^{[1
]}

Vasconcelos, Alice ^{[1
]}

Pacheco, Joao Machado ^{[2
]}

Quental, Sofia ^{[3
,4
]}

Rodrigues, Sofia ^{[5
]}

Magalhaes, Magda ^{[5
]}

Freixo, Joao Parente ^{[4
,6
]}

Oliveira, Renata ^{[1
]}

Braga, Ana Costa ^{[2
,7
]}

机构：

[1] Ctr Hosp Univ Sao Joao, Serv Genet Med, Porto, Portugal

[2] Ctr Hosp Univ Sao Joao, Serv Anat Patol, Porto, Portugal

[3] Univ Porto, Inst Patol & Imunol Mol, Porto, Portugal

[4] Univ Porto, I3S, Porto, Portugal

[5] Ctr Hosp Univ Sao Joao, Serv Obstet, Porto, Portugal

[6] Univ Porto, CGPP IBMC, Porto, Portugal

[7] Univ Porto, Fac Med, Porto, 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：

OPIII-1

引用

页数：2