AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
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| Title: | AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination. |
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| Authors: | 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.; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom., Bunyan DJ; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom., Williams M; Bristol Genetics Laboratory, South West Genomics Laboratory Hub, Southmead Hospital, North Bristol NHS Trust, Bristol, United Kingdom., Buxton C; Bristol Genetics Laboratory, South West Genomics Laboratory Hub, Southmead Hospital, North Bristol NHS Trust, Bristol, United Kingdom., Majumdar A; Department of Paediatric Neurology, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom., Vijayakumar K; Department of Paediatric Neurology, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom., Hilliard T; Department of Paediatric Respiratory Medicine, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom., Turner J; Department of Paediatric Orthopaedics, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom., Burren CP; Department of Paediatric Endocrinology and Diabetes, 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 Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2021 Apr; Vol. 185 (4), pp. 1228-1235. Date of Electronic Publication: 2021 Jan 13. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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