Whole genome and exome sequencing of monozygotic twins with trisomy 21, discordant for a congenital heart defect and epilepsy

PLoS ONE

Volumn 9, Issue 6, 2014, Pages

  Chaiyasap, Pongsathorn ^a   Kulawonganunchai, Supasak ^a,b   Srichomthong, Chalurmpon ^a,c   Tongsima, Sissades ^b   Suphapeetiporn, Kanya ^a,c   Shotelersuk, Vorasuk ^a,c  

^a CHULALONGKORN UNIVERSITY   (Thailand)

^b NATIONAL SCIENCE AND TECHNOLOGY DEVELOPMENT AGENCY   (Thailand)

^c KING CHULALONGKORN MEMORIAL HOSPITAL   (Thailand)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CONVENTIONAL SANGER SEQUENCING; EPILEPSY; EXOME; GENE DELETION; GENE INSERTION; GENE SEQUENCE; GENETIC DIFFERENCE; GENETIC VARIABILITY; GENOME ANALYSIS; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INDEL MUTATION; LEUKOCYTE; MALE; MISSENSE MUTATION; MONOZYGOTIC TWINS; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE VARIANT; TRISOMY 21; VALIDATION PROCESS; COMPLICATION; DNA SEQUENCE; DOWN SYNDROME; GENETICS; GENOMICS; HEART SEPTUM DEFECT; HIGH THROUGHPUT SEQUENCING; INFANT; NEWBORN; NUCLEOTIDE SEQUENCE; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM;

BASE SEQUENCE; DOWN SYNDROME; EPILEPSY; EXOME; GENOMICS; HEART SEPTAL DEFECTS, VENTRICULAR; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INDEL MUTATION; INFANT; INFANT, NEWBORN; MALE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 84903314740     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0100191     Document Type: Article

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