Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3 , a New Gene Involved in Ocular and Craniofacial Development

Jesús-José Ferre-Fernández,José-Daniel Aroca-Aguilar,Cristina Medina-Trillo,Juan-Manuel Bonet-Fernández,C. Mendez Hernandez,Laura Morales-Fernandez,Marta Corton,María-José Cabañero-Valera,Marta Gut,Raul Tonda,Carmen Ayuso,Miguel Coca-Prados,Julian Garcia-Feijoo,Julio Escribano

Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3 , a New Gene Involved in Ocular and Craniofacial Development

2017

Jesús-José Ferre-Fernández
José-Daniel Aroca-Aguilar
Cristina Medina-Trillo
Juan-Manuel Bonet-Fernández
C. Mendez Hernandez
Laura Morales-Fernandez
Marta Corton
María-José Cabañero-Valera
Marta Gut
Raul Tonda
Carmen Ayuso
Miguel Coca-Prados
Julian Garcia-Feijoo
Julio Escribano

Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3 , a New Gene Involved in Ocular and Craniofacial Development

Keywords:

Exome sequencing
Congenital glaucoma
Medical genetics
Gene
Genetics
Craniofacial
Biology
Bioinformatics
Genetic heterogeneity
Neural crest cell migration
Pathology
Zebrafish
Dominance (genetics)
PITX2
Gene knockdown

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