Selected Genetic Syndromes with Ophthalmic Features

Author:

Kerr Natalie C.,Pivnick Enikö Karman

Publisher

Springer New York

Reference208 articles.

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2. Allanson J. Rubinstein-Taybi syndrome: the changing face. Am J Med Genet Suppl 1990;6:38–41.

3. Alport A. Hereditary familial congenital haemorrhagic nephritis. Br Med J 1927;1:504–506.

4. Alström C, Hallgren B, Nilsson L, et al. Retinal degeneration combined with obesity, diabetes mellitus, and neurogenous deafness. A specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedel syndrome. A clinical, endocrinological, and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand Suppl 1959;129:1–35.

5. Apkarian P, Spekreijse H, Swaay E, et al. Visual evoked potentials in Prader-Willi syndrome. Doc Ophthalmol 1989;71:355–367.

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