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Paper Details

<i>VAC14</i> syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.
Cold Spring Harb Mol Case Stud
11
2019
NBIA, RP, SNDC, VAC14, VAC14 mutations, VAC14 syndrome, VAC14-associated syndrome, brain iron accumulation, c.2005G, inherited retinal diseases, learning disabilities, neurodegeneration, neurodegeneration with brain iron accumulation, neurological disease, retinal, retinal photoreceptor cell, retinitis pigmentosa, spastic paraparesis, striatonigral degeneration, childhood-onset syndrome
Author NameAffiliation
Gholson J LyonNYS Institute for Basic Research in Developmental Disabilities (IBR)
Kai WangRaymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia
Kai WangRaymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia
Andrea HaworthCongenica Ltd
Wendy K ChungColumbia University Medical Center
Wendy K ChungColumbia University Medical Center
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