Abstract | OBJECTIVE: SETTING: University Hospital Department for Otology, Pathology, Ophthalmology and Clinical Genetics. STUDY DESIGN: A clinical and genetic evaluation of a mother and daughter focusing mainly on the otological, ophthalmological, histological and genetical aspects. INTERVENTION: RESULTS: CONCLUSION:
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Authors | Laura W J Baijens, Els M R De Leenheer, Henriëtte H Weekamp, Johannes R M Cruysberg, Geert R Mortier, Cor W R J Cremers |
Journal | International journal of pediatric otorhinolaryngology
(Int J Pediatr Otorhinolaryngol)
Vol. 68
Issue 12
Pg. 1573-80
(Dec 2004)
ISSN: 0165-5876 [Print] Ireland |
PMID | 15533574
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- COL2A1 protein, human
- Collagen Type II
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Topics |
- Abnormalities, Multiple
(genetics, pathology, surgery)
- Adolescent
- Adult
- Collagen Type II
(genetics)
- Connective Tissue Diseases
(pathology)
- Family Health
- Female
- Hearing Loss, Sensorineural
(pathology)
- Humans
- Mutation
- Myopia
(pathology)
- Stapes
(abnormalities)
- Stapes Surgery
- Syndrome
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