Exome sequencing identifies three novel candidate genes implicated in intellectual disability

PLoS ONE

Volumn 9, Issue 11, 2014, Pages

  Agha, Zehra ^a,b,c   Iqbal, Zafar ^b   Azam, Maleeha ^a   Ayub, Humaira ^a   Vissers, Lisenka E L M ^b   Gilissen, Christian ^b   Ali, Syeda Hafiza Benish ^a   Riaz, Moeen ^a   Veltman, Joris A ^b   Pfundt, Rolph ^b   Van Bokhoven, Hans ^b,d   Qamar, Raheel ^a,e  

^a COMSATS Institute of Information Technology ^*  (Pakistan)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c INTERNATIONAL ISLAMIC UNIVERSITY   (Pakistan)

^d RADBOUD UNIVERSITY   (Netherlands)

^e ISRA UNIVERSITY   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

METHYLTRANSFERASE; SONIC HEDGEHOG PROTEIN; ZINC FINGER PROTEIN; ACYLTRANSFERASE; HHAT PROTEIN, HUMAN; MIXED LINEAGE LEUKEMIA PROTEIN; REPRESSOR PROTEIN; ZNF589 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CONSANGUINITY; CONTROLLED STUDY; COPY NUMBER VARIATION; EPIGENETICS; EXOME; FAMILY STUDY; FEMALE; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOSITY; HHAT GENE; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; KLEEFSTRA SYNDROME; KMT2B GENE; MAJOR CLINICAL STUDY; MALE; MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PAKISTAN; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTION; RECESSIVE INHERITANCE; SCHOOL CHILD; SEQUENCE ANALYSIS; ZNF589 GENE; CHROMOSOME 9; CHROMOSOME DELETION; CONGENITAL HEART MALFORMATION; CRANIOFACIAL MALFORMATION; DOMINANT GENE; GENETICS; MISSENSE MUTATION; PEDIGREE; RECESSIVE GENE;

ACYLTRANSFERASES; ADOLESCENT; ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 9; CRANIOFACIAL ABNORMALITIES; EXOME; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; HEART DEFECTS, CONGENITAL; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION, MISSENSE; MYELOID-LYMPHOID LEUKEMIA PROTEIN; PEDIGREE; REPRESSOR PROTEINS;

EID: 84913587099     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0112687     Document Type: Article

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