GATA3 abnormalities in six patients with HDR syndrome

Endocrine Journal

Volumn 58, Issue 2, 2011, Pages 117-121

  Fukami, Maki ^a   Muroya, Koji ^b   Miyake, Tetsuo ^a,c   Iso, Manami ^a   Kato, Fumiko ^a   Yokoi, Hisashi ^d   Suzuki, Yoshimi ^e   Tsubouchi, Koji ^f   Nakagomi, Yoshiko ^g   Kikuchi, Nobuyuki ^h   Horikawa, Reiko ⁱ   Ogata, Tsutomu ^a  

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

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^c ST MARIANNA UNIVERSITY SCHOOL OF MEDICINE HOSPITAL   (Japan)

^d JAPANESE RED CROSS NAGOYA FIRST HOSPITAL   (Japan)

^e Atsumi Hospital   (Japan)

^f Mino Municipal Hospital   (Japan)

^g YAMANASHI PREFECTURAL CENTRAL HOSPITAL   (Japan)

^h YOKOHAMA CITY UNIVERSITY HOSPITAL   (Japan)

ⁱ NATIONAL CENTER FOR GLOBAL HEALTH AND MEDICINE   (Japan)

Author keywords

Dgs2; Digeorge syndrome; Gata3; Hdr syndrome; Phenotypic spectrum

Indexed keywords

TRANSCRIPTION FACTOR GATA 3;

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHROMOSOME 10P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL ARTICLE; CONTROLLED STUDY; DIGEORGE SYNDROME; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MAPPING; HETEROZYGOSITY; HETEROZYGOTE DETECTION; HUMAN; HYPOPARATHYROIDISM; HYPOPARATHYROIDISM SENSORINEURAL DEAFNESS RENAL DYSPLASIA SYNDROME; JAPANESE; KARYOTYPE 46,XX; KIDNEY DYSPLASIA; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; PROMOTER REGION; PROTEIN FUNCTION;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 10; DIGEORGE SYNDROME; FEMALE; FRAMESHIFT MUTATION; GATA3 TRANSCRIPTION FACTOR; GENE DELETION; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HUMANS; HYPOPARATHYROIDISM; MALE; MUTATION; MUTATION, MISSENSE; NEPHROSIS;

EID: 79952723825     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.K10E-234     Document Type: Article

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