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Paper Details

De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.
Am J Med Genet A
17
2018
Gly546Ser, KIF26B, KIF26B protein, amino acid, anterior horn cells, arthrogryposis, cultured cells, infant, infantile spinal muscular atrophy, kinesin superfamily, microcephaly, phosphate, pontocerebellar hypoplasia
Author NameAffiliation
Monica H WojcikBoston Children's Hospital, Harvard Medical School
Monica H WojcikBoston Children's Hospital, Harvard Medical School
Monica H WojcikThe Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Sanjay P PrabhuBoston Children's Hospital, Harvard Medical School
Catherine A BrownsteinBoston Children's Hospital, Harvard Medical School
Catherine A BrownsteinThe Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Catherine A BrownsteinBoston Children's Hospital, Harvard Medical School
Catherine A BrownsteinThe Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Julie S CohenHugo W. Moser Research Institute, Kennedy Krieger Institute
Patricia Ellen GrantBoston Children's Hospital, Harvard Medical School
Patricia Ellen GrantBoston Children's Hospital, Harvard Medical School
Pankaj B AgrawalBoston Children's Hospital, Harvard Medical School
Pankaj B AgrawalBoston Children's Hospital, Harvard Medical School
Pankaj B AgrawalThe Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
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Release 1.2