INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family.

Yousaf, S

INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family. [electronic resource] - Clinical genetics 03 2018 - 682-686 p. digital

Publication Type: Case Reports; Journal Article

1399-0004

10.1111/cge.13143 doi


Adolescent
Animals
Cataract--congenital
Child
Child, Preschool
Computational Biology--methods
Consanguinity
Female
Genes, Recessive
Genetic Variation
Humans
Infant
Loss of Function Mutation
Magnetic Resonance Imaging
Male
Pakistan
Pedigree
Phenotype
Phosphoric Monoester Hydrolases--chemistry
Exome Sequencing
Zebrafish