IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association

European Journal of Medical Genetics - Tập 63 - Trang 104073 - 2020
Santiago Montolío-Marzo1, Jaume Català-Mora2, Álvaro Madrid-Aris3, Judith Armstrong4, Jesús Díaz-Carcajosa2, Elisa Carreras2
1Ophthalmology Department at FISABIO Oftalmología Médica, Valencia, Spain
2Pediatric Retina Department at Hospital Sant Joan de Deu, Esplügues de Llobregat, Spain
3Pediatric Nephrology Department at Hospital Sant Joan de Deu, Esplügues de Llobregat, Spain
4Genetics Department at Hospital Sant Joan de Deu, Esplügues de Llobregat, Spain

Tài liệu tham khảo

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