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Hutchinson-Gilford progeria syndrome: report of a Libyan family and evidence of autosomal recessive inheritance

✍ Scribed by M. M. Khalifa


Book ID
115089859
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
802 KB
Volume
35
Category
Article
ISSN
0009-9163

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Knobloch syndrome in a large Brazilian c
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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,