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Journal Article
Cureus, ISSN 2168-8184, 03/2019, Volume 11, Issue 3
Hoffmann’s syndrome (HS) is a rare manifestation of hypothyroidism myopathy that presents with weakness, stiffness, and eventually pseudohypertrophy of... 
Health sciences | Enzymes | Laboratories | Biopsy | Hormone replacement therapy | Thyroid gland | Electromyography | Hypothyroidism | Hearing impairment | Patients
Journal Article
2013, Volume 2, 2
Reference
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 07/2019, Volume 515, Issue 2, pp. 359 - 365
SLC26A4 gene mutations lead to Pendred syndrome and non-syndromic hearing loss (DFNB4). The mouse model is well used to study the pathology of Pendred... 
Pendred syndrome | Vestibular dysfunction | Mouse model | CRISPR/Cas9 | SLC26A4 | Hearing loss | GENOTYPE-PHENOTYPE CORRELATION | CELLS | BIOCHEMISTRY & MOLECULAR BIOLOGY | INSIGHT | HEARING-LOSS | COCHLEAR | BIOPHYSICS | UNCONVENTIONAL MYOSIN | DEAFNESS | EXPRESSION | Deafness | Medical research | Gene mutations | Developmental biology | Analysis | Medicine, Experimental | Genetic aspects
Journal Article
Journal Article
Otology & Neurotology, ISSN 1531-7129, 03/2019, Volume 40, Issue 3, pp. e178 - e185
Journal Article
Neuroscience, ISSN 0306-4522, 2015, Volume 310, pp. 188 - 197
Journal Article
European Neurology, ISSN 0014-3022, 10/2007, Volume 58, Issue 3, pp. 189 - 190
Journal Article
Journal Article
CHILD`S HEALTH, ISSN 2224-0551, 04/2016, Volume 11, Issue 2.70, pp. 163 - 166
The article presents the literature review and clinical case of Pendred syndrome in a boy of 2.2 years old. 
Pendred syndrome | children | diagnosis
Journal Article
Cochlear Implants International, ISSN 1467-0100, 03/2019, Volume 20, Issue 2, pp. 100 - 103
A 10-year-old boy with fluctuating sensorineural hearing loss (SNHL) and biallelic mutations in the SLC26A4 gene and with inner ear anomalies received a... 
Pendred syndrome | Enlarged endolymphatic sacs | Temporal bone | SLC26A4 | Cochlear implantation | Enlarged vestibular aqueduct
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 2014, Volume 78, Issue 11, pp. 1996 - 1999
Journal Article
Journal Article