Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate

American Journal of Human Genetics

Volumn 86, Issue 5, 2010, Pages 743-748

  Johnston, Jennifer J ^a   Teer, Jamie K ^a,b   Cherukuri, Praveen F ^a,b   Hansen, Nancy F ^b   Loftus, Stacie K ^a   Chong, Karen ^c   Mullikin, James C ^b   Biesecker, Leslie G ^a,b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c MOUNT SINAI HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN RBM10; RNA BINDING MOTIF 10 PROTEIN; RNA BINDING PROTEIN; UNCLASSIFIED DRUG;

ANIMAL TISSUE; ARTICLE; CASE REPORT; CHROMOSOME XP; CLEFT PALATE; CONTROLLED STUDY; DISEASE SEVERITY; EMBRYO; EXON; FAMILY; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HEART ATRIUM SEPTUM DEFECT; HUMAN; MALE; MOUSE; NEWBORN; NONHUMAN; PERSISTENT LEFT SUPERIOR VENA CAVA; PES EQUINOVARUS; PIERRE ROBIN SYNDROME; PRIORITY JOURNAL; X CHROMOSOME; X CHROMOSOME LINKED DISORDER;

ANIMALS; BASE SEQUENCE; CHROMOSOMES, HUMAN, X; CLEFT PALATE; EXONS; HUMANS; MALE; MICE; MUTATION; PHENOTYPE; PIERRE ROBIN SYNDROME; RNA-BINDING PROTEINS; SYNDROME;

EID: 77951976367     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.04.007     Document Type: Article

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