Severe intellectual disability associated with recessive defects in CNTNAP2 and NRXN1

Molecular Syndromology

Volumn 2, Issue 3-5, 2011, Pages 181-185

  Zweier, C ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

CNTNAP2; Epilepsy; Intellectual disability; Mental retardation; NRXN1

Indexed keywords

CONTACTIN ASSOCIATED PROTEIN LIKE 2; NEUREXIN 1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BODY HEIGHT; BREATHING DISORDER; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; EXON; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETICS; GENOTYPE; HEAD CIRCUMFERENCE; HEPATOMEGALY; HETEROZYGOSITY; HUMAN; INHERITANCE; INTELLECTUAL IMPAIRMENT; MENTAL DEVELOPMENT; MICROCEPHALY; MOTOR PERFORMANCE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FUNCTION; RECESSIVE GENE; SEIZURE; SHORT STATURE; SOCIAL BEHAVIOR; SPEECH DEVELOPMENT; SPEECH DISORDER; TEMPORAL LOBE; TENDON REFLEX;

EID: 84860180339     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000331270     Document Type: Article

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