ELP2 is a novel gene implicated in neurodevelopmental disabilities

American Journal of Medical Genetics, Part A

Volumn 167, Issue 6, 2015, Pages 1391-1395

  Cohen, Julie S ^a   Srivastava, Siddharth ^a,b   Farwell, Kelly D ^c   Lu, Hsiao Mei ^c   Zeng, Wenqi ^c   Lu, Hong ^c   Chao, Elizabeth C ^c,d   Fatemi, Ali ^a,b  

^a KENNEDY KRIEGER INSTITUTE   (United States)

^b JOHNS HOPKINS HOSPITAL   (United States)

^c AMBRY GENETICS   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Elongator complex; ELP2; Intellectual disability; Self injury; Spastic diplegia

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ATAXIC GAIT; AUTOMUTILATION; BEHAVIOR DISORDER; CASE REPORT; CEREBRAL PALSY; CHOREOATHETOSIS; DELAYED DIAGNOSIS; DEVELOPMENTAL DISORDER; DNA SEQUENCE; ELP2 GENE; EXOME; FEMALE; GENE; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HUMAN; HYPERREFLEXIA; INTELLECTUAL IMPAIRMENT; LANGUAGE DISABILITY; MALE; MISSENSE MUTATION; MOTOR DYSFUNCTION; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; NEURODEVELOPMENTAL DISABILITY; PHENOTYPE; PRIORITY JOURNAL; SEGREGATION ANALYSIS; SPASTICITY; YOUNG ADULT; AMINO ACID SEQUENCE; GENE EXPRESSION; GENETICS; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; INTELLECTUAL DISABILITY; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; SELF-INJURIOUS BEHAVIOR; SIBLING;

ELP2 PROTEIN, HUMAN; SIGNAL PEPTIDE;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CEREBRAL PALSY; EXOME; GENE EXPRESSION; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTELLECTUAL DISABILITY; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SELF-INJURIOUS BEHAVIOR; SIBLINGS;

EID: 84929943880     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36935     Document Type: Article

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