Academic Journal
Right‐sided microtia and conductive hearing loss with variable expressivity in three generations
| العنوان: | Right‐sided microtia and conductive hearing loss with variable expressivity in three generations |
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| المؤلفون: | Ørstavik, Karen Helene, Medbø, Sverre, Mair, Iain W. S. |
| المصدر: | Clinical Genetics ; volume 38, issue 2, page 117-120 ; ISSN 0009-9163 1399-0004 |
| بيانات النشر: | Wiley |
| سنة النشر: | 1990 |
| المجموعة: | Wiley Online Library (Open Access Articles via Crossref) |
| الوصف: | Familial cases of microtia and meatal atresia are rare, and both dominant and recessive inheritance have been suggested. We here report a family with right‐sided external ear malformations and conductive hearing loss in a grandfather, his daughter and granddaughter. The grandfather and the granddaughter both had microtia and meatal atresia, whereas the daughter had a normal outer ear except for a narrow meatus and auricular appendages. The pedigree suggests autosomal dominant inheritance with variable expressivity. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1111/j.1399-0004.1990.tb03558.x |
| الاتاحة: | http://dx.doi.org/10.1111/j.1399-0004.1990.tb03558.x https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.1990.tb03558.x https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.1990.tb03558.x |
| Rights: | http://onlinelibrary.wiley.com/termsAndConditions#vor |
| رقم الانضمام: | edsbas.48F4425A |
| قاعدة البيانات: | BASE |
| DOI: | 10.1111/j.1399-0004.1990.tb03558.x |
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