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Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2013, Volume 92, Issue 6, pp. 990 - 995
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 03/2018, Volume 19, Issue 1, pp. 32 - 10
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 974 - 983
Journal Article
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 10/2017, Volume 18, Issue 1, pp. 121 - 6
Background: Hypoparathyroidism, sensorineural hearing loss, and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare genetic disorder with... 
Sensorineural | Case report | HDR syndrome | Hypoparathyroidism | DFNX2 | GATA3 gene | Renal anomalies | Hearing loss | CELLS | DNA-BINDING | DOMAIN | SENSORINEURAL DEAFNESS | SYNDROME HYPOPARATHYROIDISM | POU3F4 | GENETICS & HEREDITY | DYSPLASIA SYNDROME | TRANSCRIPTION FACTOR | GATA3 Transcription Factor - genetics | Frameshift Mutation | Humans | Hypoparathyroidism - physiopathology | Infant | Male | Tomography, X-Ray Computed | Hypoparathyroidism - genetics | Hypoparathyroidism - surgery | Hypoparathyroidism - diagnosis | Hearing Loss, Sensorineural - diagnosis | Nephrosis - diagnosis | Genetic Diseases, X-Linked - genetics | Genetic Diseases, X-Linked - physiopathology | Diagnosis, Differential | Gene Expression | Chromosomes, Human, Pair 10 - chemistry | Hearing Loss, Sensorineural - genetics | Nephrosis - genetics | Hearing Loss, Conductive - physiopathology | Genetic Diseases, X-Linked - diagnosis | Haploinsufficiency | Hearing Loss, Conductive - diagnosis | Cochlear Implantation | Nephrosis - physiopathology | Nephrosis - surgery | Hearing Loss, Conductive - genetics | Heterozygote | Hearing Loss, Sensorineural - surgery | Hearing Loss, Sensorineural - physiopathology | Case studies | Genetic disorders | Research | Diagnosis | Gene mutations | Transcription factors | Nuclear magnetic resonance--NMR | Genes | Gene deletion | Genetic screening | Mimicry | Clonal deletion | Computed tomography | Genetic analysis | Chromosome 10 | Tomography | Bones | Differential diagnosis | Hypocalcemia | Seizures | Cochlear implants | Deafness | Congenital diseases | Temporal bone | Dietary supplements | Breast cancer | Hearing impairment | GATA-3 protein | Cochlea | Ears & hearing | Mutation | Kidney diseases
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 2005, Volume 16, Issue 3, pp. 729 - 745
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 950 - 961
Journal Article
Journal Article