eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | pendred syndrome |
| Comorbidity | C0018021|goiter |
| Sentences | 2 |
| PubMedID- 21961810 | Background: mutations in slc26a4 cause pendred syndrome (hearing loss with goiter) or dfnb4 (non-syndromic hearing loss with inner ear malformation, such as enlarged vestibular aqueduct or mondini deformity). |
| PubMedID- 24446653 | pendred syndrome, with or without goiter, and pseudohypoparathyroidism may both present with mild or moderate increases in tsh concentration during the neonatal period and should be included in the differential diagnosis of ch with gland in situ (60). |
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