Open AccessSSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance
Author(s) -
Neringa Jurkutė,
Fabiana D’Esposito,
Anthony G. Robson,
Robert D. S. Pitceathly,
M. Francesca Cordeiro,
F. Lucy Raymond,
Anthony T. Moore,
Michel Michaelides,
Patrick YuWaiMan,
Andrew R. Webster,
Gavin Arno
Publication year - 2021
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.62.15.12
Subject(s) - penetrance , genetics , biology , disease , genotype , atrophy , dystrophy , phenotype , bioinformatics , pathology , medicine , gene
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