FERNANDO SCAGLIA to Cataract
This is a "connection" page, showing publications FERNANDO SCAGLIA has written about Cataract.
Connection Strength
0.286
-
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 Feb 02; 100(2):343-351.
Score: 0.119
-
POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria. Gene. 2012 May 10; 499(1):209-12.
Score: 0.084
-
Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology. J Pediatr. 2005 Dec; 147(6):847-50.
Score: 0.055
-
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes. Am J Med Genet A. 2016 10; 170(10):2711-8.
Score: 0.028