TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia - Ogata, Tsutomu; Niihori, Tetsuya; Tanaka, Noriko; Kawai, Masahiko; Nagashima, Takeshi; Funayama, Ryo; Nakayama, Keiko; Nakashima, Shinichi; Kato, Fumiko; Fukami, Maki; Aoki, Yoko; Matsubara, Yoichi (PloS one, 2014)
Keywords: Adolescent; Adult; Asian Continental Ancestry Group - genetics; Biology and Life Sciences; Cancer; Cell growth; Child; Child, Preschool; Childrens health; Chromosome 22; Chromosome deletion; Chromosomes; Comparative analysis; Comparative Genomic Hybridization; Copy number; Cytogenetics; DiGeorge Syndrome - diagnosis; DiGeorge Syndrome - genetics; DiGeorge Syndrome - metabolism; Ear diseases; Exome; Families & family life; Female; Fluorescence; Fluorescence in situ hybridization; Frameshift mutation; Genetic analysis; Genetic aspects; Genetics; Genomes; Genotype & phenotype; High-Throughput Nucleotide Sequencing; Hospitals; Humans; Hybridization; Hybridization analysis; Hypocalcemia; Hypocalcemia - genetics; Hypocalcemia - metabolism; Hypoparathyroidism; Hypoplasia; In Situ Hybridization, Fluorescence; Infant; Infant, Newborn; Japan; Localization; Male; Medical research; Medical screening; Medicine; Medicine and Health Sciences; Mutation; Parathyroid hormones; Patients; Pediatrics; Pedigree; Phenotype; Studies; T-Box Domain Proteins - genetics; Tbx1 protein; Thymic hypoplasia; Thymus; University graduates; Young Adult; Japan