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Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement.
Mahajan, Sonal; Ng, Bobby George; AlAbdi, Lama; Earnest, Paul Daniel James; Sosicka, Paulina; Patel, Nisha; Helaby, Rana; Abdulwahab, Firdous; He, Miao; Alkuraya, Fowzan S; Freeze, Hudson H.
Afiliação
  • Mahajan S; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
  • Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
  • AlAbdi L; Department of Translational Genomics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Earnest PDJ; Department of Zoology, College of Science, King Saud University, Riyadh, Riyadh Province, Saudi Arabia.
  • Sosicka P; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Patel N; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
  • Helaby R; Department of Translational Genomics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Abdulwahab F; Department of Translational Genomics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • He M; Department of Translational Genomics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alkuraya FS; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Freeze HH; Department of Translational Genomics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
J Med Genet ; 60(7): 627-635, 2023 07.
Article em En | MEDLINE | ID: mdl-36357165
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article