Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family

American Journal of Medical Genetics, Part A

Volumn 170, Issue 2, 2016, Pages 540-543

  Komara, Makanko ^a   John, Anne ^a   Suleiman, Jehan ^a,b   Ali, Bassam R ^a   Al Gazali, Lihadh ^a  

^a UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^b TAWAM HOSPITAL   (United Arab Emirates)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; AMINO ACID; AMMONIA; LACTIC ACID; LYSOSOME ENZYME; VERY LONG CHAIN FATTY ACID; LHFPL5 PROTEIN, HUMAN; MEMBRANE PROTEIN; NERVE PROTEIN; WDR81 PROTEIN, HUMAN;

ARAB; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME; CEREBELLUM ATROPHY; CHILD; CLINICAL EVALUATION; COCHLEA PROSTHESIS; COMPARATIVE GENOMIC HYBRIDIZATION; DNA EXTRACTION; DNA SEQUENCE; ECHOGRAPHY; EYE EXAMINATION; FEMALE; GAIT DISORDER; GENE; GENE MAPPING; GENE MUTATION; HEARING AID; HEARING TEST; HUMAN; LETTER; LHFPL5 GENE; MENTAL DISEASE; MICROARRAY ANALYSIS; MOTOR DYSFUNCTION; MUSCULOSKELETAL SYSTEM EXAMINATION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA EXTRACTION; SANGER SEQUENCING; SCHOOL CHILD; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPEECH DISORDER; TREMOR; WALKING DIFFICULTY; WDR81 GENE; WHOLE EXOME SEQUENCING; GENETICS; HOMOZYGOTE; INTELLECTUAL IMPAIRMENT; MALE; MUTATION; PATHOLOGY; PEDIGREE;

ARABS; CEREBELLAR ATAXIA; CHILD; CHILD, PRESCHOOL; FEMALE; HEARING LOSS, SENSORINEURAL; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE;

EID: 84956930413     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37421     Document Type: Letter

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