Overview of included studies for CHOR-PDE10A:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Knopp, 2019 Family study 2 B 0% 1 p.Leu675Pro: hom
Miyatake, 2018 Family study 4 A 50% 8(+/-5) p.Phe300Leu: het
Narayanan, 2018 Family study 2 I 50% 4(+/-1) p.Phe334Cys: het
Esposito, 2017 Case report/Case series 1 C 100% 3 p.Phe334Leu: het
Mencacci, 2016 Case report/Case series 3 C 33% 6(+/-2) p.Phe334Leu: het
p.Phe300Leu: het
Diggle, 2016 Family study 6 n.a. 50% 2(+/-2) p.Tyr107Cys: hom
p.Ala116Pro: hom
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