The Syndrome of Familial Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia
The syndrome of familial hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR syndrome) is inherited as an autosomal dominant trait, caused by haploinsufficiency of the GATA3 gene in chromosome 10p. Although first described years ago, but the disease is considered to be very rare. Patients usually present with hypocalcemia, tetany, or afebrile convulsions at any age. Hearing loss is usually bilateral, range from mild to profound impairment. Renal disease includes dysplasia, hypoplasia or aplasia.
| Medienart: |
Artikel |
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| Erscheinungsjahr: |
2015 |
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| Erschienen: |
2015 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:63 |
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| Enthalten in: |
The Journal of the Association of Physicians of India - 63(2015), 6 vom: 18. Juni, Seite 73-5 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Meena, Ratti Lal [VerfasserIn] |
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| Themen: |
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| Anmerkungen: |
Date Completed 01.02.2016 Date Revised 29.12.2015 published: Print Citation Status MEDLINE |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM255955812 |
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| 520 | |a The syndrome of familial hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR syndrome) is inherited as an autosomal dominant trait, caused by haploinsufficiency of the GATA3 gene in chromosome 10p. Although first described years ago, but the disease is considered to be very rare. Patients usually present with hypocalcemia, tetany, or afebrile convulsions at any age. Hearing loss is usually bilateral, range from mild to profound impairment. Renal disease includes dysplasia, hypoplasia or aplasia | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
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| 700 | 1 | |a Samar, Neera |e verfasserin |4 aut | |
| 700 | 1 | |a Ruhela, Asim |e verfasserin |4 aut | |
| 700 | 1 | |a Saini, Subhash |e verfasserin |4 aut | |
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