Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia

Pediatric Nephrology

Volumn 26, Issue 7, 2011, Pages 1167-1170

  Al Shibli, Amar ^a   Al Attrach, Ibrahim ^a   Willems, Patrick J ^b  

^a TAWAM HOSPITAL   (United Arab Emirates)

^b Genetic Diagnostics Belgium   (Belgium)

Author keywords

Deafness; GATA3; HDR syndrome; Hypomagnesemia; Hypoparathyroidism; Renal dysplasia

Indexed keywords

CALCIFEDIOL; CALCITRIOL; CALCIUM; DNA; MAGNESIUM; PARATHYROID HORMONE; PHOSPHORUS; SUCCIMER; TRANSCRIPTION FACTOR GATA 3; VITAMIN D;

ARTICLE; AUDIOMETRY; CALCIUM BLOOD LEVEL; CASE REPORT; CHILD; CONVULSION; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; ECHOGRAPHY; EXON; GENE DELETION; GENE MUTATION; HETEROZYGOTE; HUMAN; HYPERPHOSPHATEMIA; HYPOCALCEMIA; HYPOMAGNESEMIA; HYPOPARATHYROIDISM; HYPOPARATHYROIDISM SENSORINEURAL DEAFNESS RENAL HYPOPLASIA; KIDNEY HYPOPLASIA; KIDNEY SCINTISCANNING; LABORATORY TEST; MAGNESIUM BLOOD LEVEL; MALE; PARATHYROID HORMONE BLOOD LEVEL; PERCEPTION DEAFNESS; PHOSPHATE BLOOD LEVEL; PRESCHOOL CHILD; PRIORITY JOURNAL; VITAMIN BLOOD LEVEL; VITAMIN D DEFICIENCY; VITAMIN SUPPLEMENTATION;

AUDIOMETRY; BIOLOGICAL MARKERS; DIETARY SUPPLEMENTS; DNA MUTATIONAL ANALYSIS; EXONS; GATA3 TRANSCRIPTION FACTOR; GENETIC PREDISPOSITION TO DISEASE; HEARING LOSS, SENSORINEURAL; HUMANS; HYPOCALCEMIA; HYPOPARATHYROIDISM; INFANT, NEWBORN; KIDNEY; MAGNESIUM; MALE; NEPHROSIS; PHENOTYPE; SEQUENCE DELETION; UNITED ARAB EMIRATES;

EID: 80052474614     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-011-1835-8     Document Type: Article

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