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

American Journal of Medical Genetics, Part A

Volumn 173, Issue 3, 2017, Pages 740-743

  Costain, Gregory ^a,b   Shugar, Andrea ^b,c   Krishnan, Pradeep ^b   Mahmutoglu, Saadet ^b   Laughlin, Suzanne ^b   Kannu, Peter ^b,c  

^a UNIVERSITY OF TORONTO   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

Author keywords

brain structure; Cree; DRES17; founder effect; HTCD37; infantile spasms; Ojibwe; PRUNE; PRUNE1; whole exome sequencing

Indexed keywords

ARTICLE; BRAIN ATROPHY; BRAIN VENTRICLE DILATATION; CASE REPORT; CHILD; GENETIC VARIATION; GLOBUS PALLIDUS; HOMOZYGOTE; HUMAN; INTRON; MAGNETIC RESONANCE ANGIOGRAPHY; MALE; MUTATOR GENE; NEUROIMAGING; OJI-CREE (PEOPLE); PHENOTYPE; PRESCHOOL CHILD; PRUNE1 GENE; WHITE MATTER; WHOLE EXOME SEQUENCING; BRAIN; CHROMOSOMAL MAPPING; EXOME; FACIES; GENETIC ASSOCIATION STUDY; HIGH THROUGHPUT SEQUENCING; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY;

BRAIN; CHILD, PRESCHOOL; CHROMOSOME MAPPING; EXOME; FACIES; GENETIC ASSOCIATION STUDIES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PHENOTYPE;

EID: 85013156438     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.38066     Document Type: Article

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