TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia

PLoS ONE

Volumn 9, Issue 3, 2014, Pages

  Ogata, Tsutomu ^a   Niihori, Tetsuya ^b   Tanaka, Noriko ^c   Kawai, Masahiko ^d   Nagashima, Takeshi ^e   Funayama, Ryo ^e   Nakayama, Keiko ^e   Nakashima, Shinichi ^a   Kato, Fumiko ^a   Fukami, Maki ^f   Aoki, Yoko ^b   Matsubara, Yoichi ^b,f  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c KURASHIKI CENTRAL HOSPITAL   (Japan)

^d KYOTO UNIVERSITY   (Japan)

^e TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^f NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOSINE; ISOPROTEIN; PHENYLALANINE; T BOX TRANSCRIPTION FACTOR; TBX1 PROTEIN, HUMAN;

22Q11.2 DELETION SYNDROME; ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME DELETION 22Q11; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; CRANIOFACIAL MALFORMATION; EXOME; EXON; FAMILY STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRAMESHIFT MUTATION; GENE; HETEROZYGOSITY; HUMAN; HYPOCALCEMIA; JAPANESE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEAR LOCALIZATION SIGNAL; NUCLEOTIDE SEQUENCE; PHENOTYPE; SEQUENCE ANALYSIS; TBX1 GENE; TRANSACTIVATION; ASIAN CONTINENTAL ANCESTRY GROUP; CASE REPORT; DIGEORGE SYNDROME; GENETICS; HIGH THROUGHPUT SEQUENCING; INFANT; JAPAN; METABOLISM; MUTATION; NEWBORN; PEDIGREE; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; DIGEORGE SYNDROME; EXOME; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; HYPOCALCEMIA; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; JAPAN; MALE; MUTATION; PEDIGREE; PHENOTYPE; T-BOX DOMAIN PROTEINS; YOUNG ADULT;

EID: 84898670883     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0091598     Document Type: Article

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