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AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.

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Title: AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
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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  Data: AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
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  Data: <searchLink fieldCode="AU" term="%22Edgerley+K%22">Edgerley K</searchLink>; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Barnicoat+A%22">Barnicoat A</searchLink>; Department of Clinical Genetics, Great Ormond Street for Children NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Offiah+AC%22">Offiah AC</searchLink>; Department of Oncology and Metabolism, University of Sheffield, Sheffield, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Calder+AD%22">Calder AD</searchLink>; Radiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Mankad+K%22">Mankad K</searchLink>; Radiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Thomas+NS%22">Thomas NS</searchLink>; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Bunyan+DJ%22">Bunyan DJ</searchLink>; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Williams+M%22">Williams M</searchLink>; Bristol Genetics Laboratory, South West Genomics Laboratory Hub, Southmead Hospital, North Bristol NHS Trust, Bristol, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Buxton+C%22">Buxton C</searchLink>; Bristol Genetics Laboratory, South West Genomics Laboratory Hub, Southmead Hospital, North Bristol NHS Trust, Bristol, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Majumdar+A%22">Majumdar A</searchLink>; Department of Paediatric Neurology, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Vijayakumar+K%22">Vijayakumar K</searchLink>; Department of Paediatric Neurology, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Hilliard+T%22">Hilliard T</searchLink>; Department of Paediatric Respiratory Medicine, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Turner+J%22">Turner J</searchLink>; Department of Paediatric Orthopaedics, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Burren+CP%22">Burren CP</searchLink>; Department of Paediatric Endocrinology and Diabetes, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Monsell+F%22">Monsell F</searchLink>; Department of Paediatric Orthopaedics, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Smithson+SF%22">Smithson SF</searchLink>; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2021 Apr; Vol. 185 (4), pp. 1228-1235. <i>Date of Electronic Publication: </i>2021 Jan 13.
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