Autosomal recessive BLOC1S1 variants cause a hypomyelinating leukodystrophy with epileptic encephalopathy von Gonzalez, Carlos Dominguez, Sanderson, Leslie E., Depace, Raffaella, Helman, Guy, Wu, Kaiyuan, Disanza, Brianna, Pizzino, Amy, Schmidt, Johanna, Muirhead, Kayla, Bonkowsky, Joshua, Taft, Ryan, Sannaa, Nouriya, Dias, Patrícia, Mutlu, Mehmet Burak, Bertoli-Avella, Aida M., Maroofian, Reza, Barakat, Tahsin Stefan, Bhoj, Elizabeth, Ahrens-Nicklas, Rebecca, Simons, Cas, Wolvetang, Ernst, Sack, Michael N., van Ham, Tjakko, Hsiao-Sánchez, Nicole, Bonifacino, Juan S., Vanderver, Adeline

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