A 43 years-old patient with Cornelia de Lange Syndrome with NIPBL gene mutation and a mild phenotype

被引：0

作者：

Vilella, Thaina ^{[1
]}

Nunes, Beatriz Carvalho ^{[1
]}

Pinheiro, Isabel ^{[2
]}

Aoi, Haromi ^{[3
]}

Matsumoto, Naomichi ^{[3
]}

Kim, Chong ^{[2
]}

Melaragno, Maria Isabel ^{[1
]}

机构：

[1] Univ Fed Sao Paulo, Morphol & Genet, Sao Paulo, Brazil

[2] Univ Sao Paulo, Inst Crianca Hosp Clin, Sao Paulo, Brazil

[3] Yokohama City Univ, Human Genet, Yokohama, Kanagawa, Japan

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

基金：

巴西圣保罗研究基金会;

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

EP12.030

引用

页码：235 / 235

页数：1

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