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A disease-causing variant in HNRNPH2 inherited from an unaffected mother with skewed X-inactivation.
White-Brown, Alexandre M; Lemire, Gabrielle; Ito, Yoko A; Thornburg, Olivia; Bain, Jennifer M; Dyment, David A.
Affiliation
  • White-Brown AM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Lemire G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Ito YA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Thornburg O; Department of Neurology, Division of Child Neurology, Columbia University Irving Medical Center, New York, New York City, USA.
  • Bain JM; Department of Neurology, Division of Child Neurology, Columbia University Irving Medical Center, New York, New York City, USA.
  • Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Am J Med Genet A ; 188(2): 668-671, 2022 02.
Article in En | MEDLINE | ID: mdl-34719854
Subject(s)
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: X Chromosome Inactivation / Mothers Limits: Female / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Canada Country of publication: United States
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: X Chromosome Inactivation / Mothers Limits: Female / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Canada Country of publication: United States