Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype.

Costain, Gregory

Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype. [electronic resource] - American journal of medical genetics. Part A Mar 2017 - 740-743 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.38066 doi


Brain--pathology
Child, Preschool
Chromosome Mapping
Exome
Facies
Genetic Association Studies
High-Throughput Nucleotide Sequencing
Homozygote
Humans
Magnetic Resonance Imaging
Male
Mutation
Phenotype