KIAA2022 nonsense mutation in a symptomatic female

American Journal of Medical Genetics, Part A

Volumn 170, Issue 3, 2016, Pages 703-706

  Farach, Laura S ^a   Northrup, Hope ^a  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

Author keywords

Autism; Epilepsy; Intellectual disability; KIAA2022; X inactivation; X linked

Indexed keywords

CARBAMAZEPINE; CLOBAZAM; CLORAZEPATE; ETIRACETAM; HARKOSERIDE; LAMOTRIGINE; RUFINAMIDE; TOPIRAMATE; VALPROATE SEMISODIUM; NERVE PROTEIN; STOP CODON; XPN PROTEIN, HUMAN;

ABSENCE; ADOLESCENT; ARTICLE; ATONIC DROP; AUTISM; CASE REPORT; DISEASE SEVERITY; EPILEPSY; FEMALE; GENE; GENERAL ASPECTS OF DISEASE; HUMAN; INTELLECTUAL IMPAIRMENT; KIAA2022 GENE; MEDICAL HISTORY; MICROCEPHALY; MUTATIONAL ANALYSIS; NON SYNDROMIC X LINKED INTELLECTUAL DISABILITY; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; SEIZURE FREQUENCY; SHORT STATURE; SPEECH DISORDER; TONIC CLONIC SEIZURE; TONIC SEIZURE; X CHROMOSOME INACTIVATION; DWARFISM; FACIES; GENETIC ASSOCIATION STUDY; GENETICS; INTELLECTUAL DISABILITY; STOP CODON;

ADOLESCENT; CODON, NONSENSE; DWARFISM; EPILEPSY; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INTELLECTUAL DISABILITY; NERVE TISSUE PROTEINS; PHENOTYPE;

EID: 84959522680     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37479     Document Type: Article

References (7)

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