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,
Francesca Cordeiro,
F. Lucy Raymond,
Anthony T. Moore,
Michel Michaelides,
Patrick YuWaiMan,
Andrew R. Webster,
Gavin Arno,
AUTHOR_ID
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