Your browser doesn't support javascript.
loading
Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.
Davids, Mariska; Markello, Thomas; Wolfe, Lynne A; Chepa-Lotrea, Xenia; Tifft, Cynthia J; Gahl, William A; Malicdan, May Christine V.
Affiliation
  • Davids M; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland.
  • Markello T; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland.
  • Wolfe LA; Office of the Clinical Director, NHGRI, NIH, Bethesda, Maryland.
  • Chepa-Lotrea X; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland.
  • Tifft CJ; Office of the Clinical Director, NHGRI, NIH, Bethesda, Maryland.
  • Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland.
  • Malicdan MCV; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland.
Hum Mutat ; 40(1): 42-47, 2019 01.
Article in En | MEDLINE | ID: mdl-30362252
Subject(s)
Key words
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spasms, Infantile / Chromosome Deletion / Uniparental Disomy / Tumor Suppressor Proteins / WW Domain-Containing Oxidoreductase Limits: Adult / Child / Female / Humans / Infant Language: En Journal: Hum Mutat Year: 2019 Document type: Article
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spasms, Infantile / Chromosome Deletion / Uniparental Disomy / Tumor Suppressor Proteins / WW Domain-Containing Oxidoreductase Limits: Adult / Child / Female / Humans / Infant Language: En Journal: Hum Mutat Year: 2019 Document type: Article