| Title : Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene - Frasquet_2018_J.Neurol.Sci_387_134 |
| Author(s) : Frasquet M , Lupo V , Chumillas MJ , Vazquez-Costa JF , Espinos C , Sevilla T |
| Ref : Journal of Neurology Sci , 387 :134 , 2018 |
| Abstract : Frasquet_2018_J.Neurol.Sci_387_134 |
| ESTHER : Frasquet_2018_J.Neurol.Sci_387_134 |
| PubMedSearch : Frasquet_2018_J.Neurol.Sci_387_134 |
| PubMedID: 29571850 |
| Gene_locus related to this paper: human-ABHD12 |
| Gene_locus related to this paper: human-ABHD12 |
Frasquet M, Lupo V, Chumillas MJ, Vazquez-Costa JF, Espinos C, Sevilla T (2018)
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene
Journal of Neurology Sci
387 :134
Frasquet M, Lupo V, Chumillas MJ, Vazquez-Costa JF, Espinos C, Sevilla T (2018)
Journal of Neurology Sci
387 :134