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Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants

机译：joubert综合征在雄性成人携带双层mks1截断变体中的joubert综合征的轻度临床介绍

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期刊名称 Diagnostics
作者
Raffaella Brunetti-Pierri; Marianthi Karali; Francesco Testa; Gerarda Cappuccio; Maria Elena Onore; Francesca Romano; Giuseppe De Rosa; Enrico Tedeschi; Nicola Brunetti-Pierri; Sandro Banfi; Francesca Simonelli;
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年(卷),期 2021(11),7
年度 2021
页码 1218
总页数 7
原文格式 PDF
正文语种
中图分类
关键词

机译：MKS1.;
入库时间 2022-08-21 12:31:43

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1. Hypomorphic MKS1 MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1 MKS1 ‐related ciliopathies [J] . Irfanullah, Khan Saadullah, Ullah Imran, American journal of medical genetics, Part A . 2016,第12期

机译：巴基斯坦家族中的警长MKS1 MKS1突变与轻度Joubert综合征和非典型特征：扩大MKS1 MKS1-Heled CilioPathies的表型谱
2. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome [J] . Marta Romani, Alessia Micalizzi, Ichraf Kraoua, Orphanet journal of rare diseases . 2014,第S1期

机译：B9D1和MKS1突变导致轻度Joubert综合征：扩大与致命性纤毛病Meckel综合征的遗传重叠
3. Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings [J] . Xiang Wang, Zhu Zhang, Xueguang Zhang, Human Genomics . 2020,第1期

机译：CEP290的新型双胞胎丧失功能变体导致两个兄弟姐妹的Joubert综合征
4. HEART RATE AND PERCEIVED EXERTION AMONG YOUNG ADULT OBESE MALES DURING ONE-HANDED CARRYING [C] . Mohamed Badawy, Mark C. Schall Jr., Sean Gallagher, Proceedings of the Human Factors and Ergonomics Society 2018 annual meeting . 2018

机译：一次携带时年轻成年肥胖患者的心率和可感知的运动
5. Acute coronary syndromes: Predictors of clinical presentation and prognosis [D] . Kennon, Simon. 2002

机译：急性冠状动脉综合征：临床表现和预后的预测指标
6. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome [O] . Marta Romani, Alessia Micalizzi, Ichraf Kraoua, 2014

机译：B9D1和MKS1突变导致轻度Joubert综合征：扩大与致命性纤毛病Meckel综合征的遗传重叠
7. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome [O] . Marta Romani, Alessia Micalizzi, Ichraf Kraoua, 2014

机译：B9D1和MKS1突变导致轻度Joubert综合征：扩大与致命性纤毛病Meckel综合征的遗传重叠

Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants

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