A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

European Journal of Human Genetics

Volumn 24, Issue 12, 2016, Pages 1826-1827

  Rodan, Lance H ^a   Cohen, Julie ^b   Fatemi, Ali ^b   Gillis, Tammy ^c   Lucente, Diane ^c   Gusella, James ^c,d   Picker, Jonathan D ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b DEPARTMENT OF PATHOLOGY   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HUNTINGTIN; LEVODOPA; METHYL CPG BINDING PROTEIN 2; HTT PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRUXISM; CASE REPORT; CHILD; CLONUS; COMPARATIVE GENOMIC HYBRIDIZATION; CONTRACTURE; DEVELOPMENTAL DISORDER; DYSTONIA; EPILEPSY; EXOME; FEEDING DIFFICULTY; FEMALE; HETEROZYGOTE; HIGH MYOPIA; HUMAN; HUMAN TISSUE; MACROCEPHALY; MALE; MENTAL DISEASE; MUSCLE BIOPSY; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; MYOPIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; QUADRIPLEGIA; RESPIRATORY DISTRESS; SCHOOL CHILD; SIBLING; SPASTICITY; STRABISMUS; ADULT; DEVELOPMENTAL DISABILITIES; GENETICS; MUTATION; PEDIGREE; PHENOTYPE; RECESSIVE GENE; SYNDROME;

ADULT; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FEMALE; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; HUNTINGTIN PROTEIN; MALE; MUSCLE HYPOTONIA; MUTATION; PEDIGREE; PHENOTYPE; SYNDROME;

EID: 84975455196     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2016.74     Document Type: Article

References (8)

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