Autosomal Recessive BLOC1S1 Variants Cause a Hypomyelinating Leukodystrophy with Epileptic Encephalopathy
Carlos Dominguez Gonzalez,Leslie E. Sanderson, Raffaella Depace,Guy Helman,Kaiyuan Wu,Brianna Disanza,Amy Pizzino,Johanna Schmidt,Kayla Muirhead,Joshua Bonkowsky,Ryan Taft, Nouriya Sannaa,Patricia Dias,Mehmet Burak Mutlu,Aida M. Bertoli-Avella,Reza Maroofian,Tahsin Stefan Barakat,Elizabeth Bhoj,Rebecca Ahrens-Nicklas,Cas Simons,Ernst Wolvetang,Michael N. Sack, Tjakko van Ham, Nicole Hsiao-Sanchez,Juan S. Bonifacino, Adeline Vanderver Molecular Genetics and Metabolism（2024）
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