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Autosomal inheritance of “senile” retinitis pigmentosa. A report of a family with consanguinity

✍ Scribed by Dominique Bonneau; Josseline Kaplan; Georges Girard; Jean-Louis Dufier


Book ID
115090321
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
169 KB
Volume
42
Category
Article
ISSN
0009-9163

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Knobloch syndrome in a large Brazilian c
✍ Passos-Bueno, M. Rita ;Marie, Suely K. ;Monteiro, Mario ;Neustein, Isaac ;Whittl 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 382 KB 👁 3 views

Knobloch syndrome is a rare genetic disorder characterized by high myopia, vitreoretinal degeneration with retinal detachment and occipital cephalocele. The inheritance has been described as autosomal recessive (AR) but in addition to the original report with 5 affected patients [Knobloch and Layer,