Siblings with congenital renal tubular acidosis and nerve deafness
| العنوان: | Siblings with congenital renal tubular acidosis and nerve deafness |
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| المؤلفون: | A. Gentine, C. Stoll, J. Geisert |
| المصدر: | Clinical Genetics. 50:235-239 |
| بيانات النشر: | Wiley, 2008. |
| سنة النشر: | 2008 |
| مصطلحات موضوعية: | Male, medicine.medical_specialty, Pediatrics, Adolescent, Hearing loss, media_common.quotation_subject, Genes, Recessive, Consanguinity, Deafness, Nuclear Family, Renal tubular acidosis, Tubulopathy, Internal medicine, otorhinolaryngologic diseases, Genetics, medicine, Humans, Girl, Child, Genetics (clinical), media_common, Acidosis, business.industry, Acidosis, Renal Tubular, Syndrome, medicine.disease, Endocrinology, Female, France, medicine.symptom, Nephrocalcinosis, business, Kidney disease |
| الوصف: | Two siblings (a boy and a girl) had congenital renal tubular acidosis (RTA) with nephrocalcinosis. Hearing loss due to nerve deafness was diagnosed at 13 1/2 and 9 years of age, respectively. The parents, who are second cousins, are healthy. They have another boy who is unaffected. This is in accordance with an autosomal recessive gene. The association of RTA and deafness was first noted by Royer in 1967, and so far some 50 cases have been described. The literature is reviewed. |
| تدمد: | 1399-0004 0009-9163 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e88a159ea1eb494c2028f2b9d331c2de https://doi.org/10.1111/j.1399-0004.1996.tb02634.x |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....e88a159ea1eb494c2028f2b9d331c2de |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13990004 00099163 |
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