HDR Syndrome: A novel "de novo" Mutation in GATA3 Gene

American Journal of Medical Genetics, Part A

Volumn 149, Issue 4, 2009, Pages 770-775

  Ferraris, Silvio ^a,b   Del monaco, Angelo Giovanni ^a   Garelli, Emanuela ^a   Carando, Adriana ^a   Vito, Barbara De ^b   Pappi, Patrizia ^a   Lala, Roberto ^b   Ponzone, Alberto ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

Author keywords

Deafness; GATA3 gene; HDR syndrome; Hypoparathyroidism; Renal anomalies

Indexed keywords

NUCLEOTIDE; TRANSCRIPTION FACTOR GATA 3;

ADOLESCENT; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CHROMOSOME DELETION; CLINICAL FEATURE; CODON; COMPUTER ASSISTED TOMOGRAPHY; EXON; FAHR DISEASE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE MUTATION; HEARING IMPAIRMENT; HETEROZYGOTE; HUMAN; HYPOPARATHYROIDISM; HYPOPARATHYROIDISM DEAFNESS RENAL DYSPLASIA SYNDROME; KIDNEY DYSPLASIA; MALE; NEUROIMAGING; NYSTAGMUS; OPHTHALMOSCOPY; PAPILLEDEMA; PRIORITY JOURNAL; PTOSIS; RESTRICTION MAPPING;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; BLEPHAROPTOSIS; CODON, NONSENSE; DNA; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; GATA3 TRANSCRIPTION FACTOR; HEARING LOSS, SENSORINEURAL; HUMANS; HYPOPARATHYROIDISM; KIDNEY; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NYSTAGMUS, PATHOLOGIC; SEQUENCE DELETION; SYNDROME;

EID: 63749128216     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32689     Document Type: Article

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