GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome

World Journal of Pediatrics

Volumn 10, Issue 3, 2014, Pages 278-280

  Zhu, Zi Yang ^a   Zhou, Qiao Li ^a   Ni, Shi Ning ^a   Gu, Wei ^a  

^a CHILDREN S HOSPITAL OF NANJING MEDICAL UNIVERSITY   (China)

Author keywords

HDR syndrome; mutation

Indexed keywords

TRANSCRIPTION FACTOR GATA 3; BIOLOGICAL MARKER; GATA3 PROTEIN, HUMAN; STOP CODON;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; DNA SEQUENCE; EXON; FAMILIAL DISEASE; GENE MUTATION; HEARING IMPAIRMENT; HETEROZYGOTE; HOSPITAL ADMISSION; HUMAN; HYPOPARATHYROIDISM; HYPOPARATHYROIDISM DEAFNESS AND RENAL DYSPLASIA SYNDROME; KIDNEY CYST; KIDNEY DYSPLASIA; MALE; MUTATIONAL ANALYSIS; NEPHROLITHIASIS; NONSENSE MUTATION; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PURE TONE AUDIOMETRY; SCHOOL CHILD; SEQUENCE ANALYSIS; STOP CODON; TETANY; ZINC FINGER MOTIF; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BLOOD; DEAFNESS; FATHER; GENETICS; MULTICYSTIC DYSPLASTIC KIDNEY; PEDIGREE; SYNDROME;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BIOLOGICAL MARKERS; CHILD; CODON, NONSENSE; DEAFNESS; EXONS; FATHERS; GATA3 TRANSCRIPTION FACTOR; HUMANS; HYPOPARATHYROIDISM; MALE; MULTICYSTIC DYSPLASTIC KIDNEY; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 84926043061     PISSN: 17088569     EISSN: 18670687     Source Type: Journal    
DOI: 10.1007/s12519-014-0505-x     Document Type: Article

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