A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome)

Journal of Pediatric Endocrinology and Metabolism

Volumn 19, Issue 1, 2006, Pages 87-92

  Adachi, Masanori ^a   Tachibana, Katsuhiko ^a   Asakura, Yumi ^a   Tsuchiya, Takayoshi ^a  

^a KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

Deafness; GATA3; HDR syndrome; Hypoparathyroidism

Indexed keywords

ANTICONVULSIVE AGENT; CALCIUM; GENOMIC DNA; PARATHYROID HORMONE; TRANSACTIVATOR PROTEIN; TRANSCRIPTION FACTOR GATA 3; ZINC FINGER PROTEIN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CALCIUM BLOOD LEVEL; CASE REPORT; CLINICAL FEATURE; DNA SEQUENCE; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERPHOSPHATEMIA; HYPOCALCEMIA; HYPOPARATHYROIDISM; KIDNEY MALFORMATION; MALE; NONHUMAN; NUCLEOTIDE SEQUENCE; PARATHYROID HORMONE BLOOD LEVEL; PERCEPTION DEAFNESS; PHOSPHATURIA; PROTEIN DOMAIN; SCHOOL CHILD; SEIZURE; SEQUENCE ANALYSIS;

EID: 32944459130     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2006.19.1.87     Document Type: Article

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