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Paediatric survivors beyond infancy with Stüve-Wiedemann syndrome - A case series from the West Midlands, UK.
McDermott, Helen; Simmonds, Jennifer; Thyagarajan, Manigandan; Islam, Lily; Naik, Swati; Titheradge, Hannah.
Afiliação
  • McDermott H; Birmingham Women's and Children's NHS Foundation Trust, Clinical Genetics Department, Birmingham, Birmingham, UK. Electronic address: helen.mcdermott@nhs.net.
  • Simmonds J; Leeds Teaching Hospitals NHS Trust, North East and Yorkshire Genomic Laboratory Hub Central Laboratory, Ashley Wing, St James's University Hospital, Leeds, UK.
  • Thyagarajan M; Birmingham Women's and Children's NHS Foundation Trust, Radiology Department, Birmingham Children's Hospital, Steelhouse Lane, Birmingham, UK.
  • Islam L; Birmingham Women's and Children's NHS Foundation Trust, Clinical Genetics Department, Birmingham, Birmingham, UK.
  • Naik S; Birmingham Women's and Children's NHS Foundation Trust, Clinical Genetics Department, Birmingham, Birmingham, UK.
  • Titheradge H; Birmingham Women's and Children's NHS Foundation Trust, Clinical Genetics Department, Birmingham, Birmingham, UK.
Eur J Med Genet ; 66(8): 104788, 2023 Aug.
Article em En | MEDLINE | ID: mdl-37295610

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Child / Humans / Infant / Newborn País/Região como assunto: Europa Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Child / Humans / Infant / Newborn País/Região como assunto: Europa Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article