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Title : Cerebral visual impairment and intellectual disability caused by PGAP1 variants - Bosch_2015_Eur.J.Hum.Genet_23_1689 |
Author(s) : Bosch DG , Boonstra FN , Kinoshita T , Jhangiani S , de Ligt J , Cremers FP , Lupski JR , Murakami Y , de Vries BB |
Ref : Eur J Hum Genet , 23 :1689 , 2015 |
Abstract : Bosch_2015_Eur.J.Hum.Genet_23_1689 |
ESTHER : Bosch_2015_Eur.J.Hum.Genet_23_1689 |
PubMedSearch : Bosch_2015_Eur.J.Hum.Genet_23_1689 |
PubMedID: 25804403 |
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 : Nishiguchi_2014_Ophthalmology_121_1620 |
ESTHER : Nishiguchi_2014_Ophthalmology_121_1620 |
PubMedSearch : Nishiguchi_2014_Ophthalmology_121_1620 |
PubMedID: 24697911 |
Gene_locus related to this paper: human-ABHD12 |