Two de novo pathogenic variants in different genes identified by a whole exome sequencing TRIO approach explain and complement the phenotype in a patient with syndromic intellectual disability and autism

被引：0

作者：

Barroso, Eva ^{[1
]}

Martinez-Matilla, Marina ^{[1
]}

Cartagena, Gemma ^{[1
]}

Ferre-Fernandez, Jesus ^{[1
]}

Velo, Alba ^{[1
]}

Berbel, Maria ^{[1
]}

Garcia-Jimenez, Rocio ^{[1
]}

Boyko, Iryna ^{[1
]}

Garcia-Herrero, Sandra ^{[1
]}

Fernandez-Vizcaino, Carmen ^{[1
]}

Sanchez-Valero, Daniel ^{[1
]}

Perez-Garcia, Cristian ^{[1
]}

Fernandez-Jaen, Alberto ^{[2
]}

Garcia Planells, Javier ^{[1
]}

机构：

[1] Igenomix, PaternaGenom Precis Diagnost, Paterna, Spain

[2] Hosp Univ Quironsalud Madrid, Pediat Neurol, Pozuelo De Alarcon, Spain

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷

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：

P10.069.D

引用

下载

页码：493 / 494

页数：2

共 13 条

[1] Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability
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GENES, 2023, 14 (01)
[2] Whole-exome sequencing identified five novel de novo variants in patients with unexplained intellectual disability
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[3] Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay
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[4] De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2024, 194 (04)
[5] Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
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Pilar Caamaño
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European Journal of Human Genetics, 2022, 30 : 938 - 945
[6] Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
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Alvarez-Barona, Miriam
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Fernandez-Prieto, Montserrat
Barros, Francisco
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Buxbaum, Joseph
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EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (08) : 938 - 945
[7] Whole exome sequencing reveals pathogenic variants in KL and PUDP genes as the cause of intellectual disability in an Iranian family
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Yoshiura, Koh-Ichiro
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[8] Whole-Exome Sequencing Identified Novel de Novo SON Variants: Two Case Reports
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JOURNAL OF MOLECULAR DIAGNOSTICS, 2024, 26 (06): : S9 - S9
[9] Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families
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Scientific Reports, 7
[10] Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families
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