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AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
Edgerley, Katharine; Barnicoat, Angela; Offiah, Amaka C; Calder, Alistair D; Mankad, Kshitij; Thomas, Nicholas Simon; Bunyan, David J; Williams, Maggie; Buxton, Chris; Majumdar, Arniban; Vijayakumar, Kayal; Hilliard, Tom; Turner, James; Burren, Christine P; Monsell, Fergal; Smithson, Sarah F.
Afiliação
  • Edgerley K; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.
  • Barnicoat A; Department of Clinical Genetics, Great Ormond Street for Children NHS Foundation Trust, London, United Kingdom.
  • Offiah AC; Department of Oncology and Metabolism, University of Sheffield, Sheffield, United Kingdom.
  • Calder AD; Radiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Mankad K; Radiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Thomas NS; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
  • Bunyan DJ; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom.
  • Williams M; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
  • Buxton C; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom.
  • Majumdar A; Bristol Genetics Laboratory, South West Genomics Laboratory Hub, Southmead Hospital, North Bristol NHS Trust, Bristol, United Kingdom.
  • Vijayakumar K; Bristol Genetics Laboratory, South West Genomics Laboratory Hub, Southmead Hospital, North Bristol NHS Trust, Bristol, United Kingdom.
  • Hilliard T; Department of Paediatric Neurology, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.
  • Turner J; Department of Paediatric Neurology, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.
  • Burren CP; Department of Paediatric Respiratory Medicine, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.
  • Monsell F; Department of Paediatric Orthopaedics, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.
  • Smithson SF; Department of Paediatric Endocrinology and Diabetes, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.
Am J Med Genet A ; 185(4): 1228-1235, 2021 04.
Article em En | MEDLINE | ID: mdl-33439541
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Predisposição Genética para Doença / Doenças Genéticas Ligadas ao Cromossomo X / Fator de Indução de Apoptose / Malformações do Sistema Nervoso Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Predisposição Genética para Doença / Doenças Genéticas Ligadas ao Cromossomo X / Fator de Indução de Apoptose / Malformações do Sistema Nervoso Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article