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Hoyng CB

References (2)

Title : The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective - Nguyen_2021_Genes.(Basel)_12_1404
Author(s) : Nguyen XT , Almushattat H , Strubbe I , Georgiou M , Li CHZ , van Schooneveld MJ , Joniau I , De Baere E , Florijn RJ , Bergen AA , Hoyng CB , Michaelides M , Leroy BP , Boon CJF
Ref : Genes (Basel) , 12 :1404 , 2021
Abstract :
PubMedSearch : Nguyen_2021_Genes.(Basel)_12_1404
PubMedID: 34573385
Gene_locus related to this paper: human-ABHD12

Title : Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration - Nishiguchi_2014_Ophthalmology_121_1620
Author(s) : Nishiguchi KM , Avila-Fernandez A , van Huet RA , Corton M , Perez-Carro R , Martin-Garrido E , Lopez-Molina MI , Blanco-Kelly F , Hoefsloot LH , van Zelst-Stams WA , Garcia-Ruiz PJ , Del Val J , Di Gioia SA , Klevering BJ , van de Warrenburg BP , Vazquez C , Cremers FP , Garcia-Sandoval B , Hoyng CB , Collin RW , Rivolta C , Ayuso C
Ref : Ophthalmology , 121 :1620 , 2014
Abstract :
PubMedSearch : Nishiguchi_2014_Ophthalmology_121_1620
PubMedID: 24697911
Gene_locus related to this paper: human-ABHD12