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：
MEDICINE | 2023年 / 102卷 / 13期
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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
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页数：2
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