Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings

著录项

• 来源
  《Clinical dysmorphology》 |2022年第2期|66-70|共5页
• 作者

  Pickwick Charlotte; Callewaert Bert; van Dijk FleurHarris JulietteWakeling EmmaHay EleanorYeo MildridChakrapani AnupamBaptista JuliaMoore SandraYoong MichaelChatterjee FionaGhali Neeti;

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• 作者单位

  Sch Med,Cardiff Univ;

  Ghent Univ Hosp,Univ Ghent;

  Ehlers Danlos Syndrome Natl Diagnost Serv,North West London Hosp NHS TrustGreat Ormond St Genet,Great Ormond St Hosp Sick ChildrenDept Paediat Metab Med,Great Ormond St Hosp Sick ChildrenExeter Genom Lab,Royal Devon & Exeter NHS Fdn TrustDept Paediat Neurol,Barts Hlth NHS TrustRoyal Hosp,Barts Hlth NHS Trust;

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• 收录信息
• 原文格式 PDF
• 正文语种 英语
• 中图分类 妇产科学;
• 关键词

  MUTATIONS; MANIFESTATIONS; ORNITHINE; DOMINANT; PYCR1; P5CS;

  机译：突变;表现形式;鸟氨酸;主导;PYCR1;P5CS;