| Title : Compound Heterozygous Variants in the Phospholipase Gene PNPLA6 Cause Hypopituitarism and Vision Loss - Vishnopolska_2026_Hum.Mutat_2026_4515038 |
| Author(s) : Vishnopolska S , Liu J , Camilletti MA , Mayer JM , Garcia LI , Brinkmeier M , Vaiani E , Vidal SH , Ciaccio M , Di Palma MI , Belgorosky A , Marti M , Hufnagel RB , Camper SA , Perez-Millan MI |
| Ref : Hum Mutat , 2026 :4515038 , 2026 |
| Abstract : |
| PubMedSearch : Vishnopolska_2026_Hum.Mutat_2026_4515038 |
| PubMedID: 42327344 |