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Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.
Elbendary, Hasnaa M; Marafi, Dana; Saad, Ahmed K; Elhossini, Rasha; Duan, Ruizhi; Rafat, Karima; Jhangiani, Shalini N; Gibbs, Richard A; Pehlivan, Davut; Calame, Daniel G; Posey, Jennifer E; Lupski, James R; Zaki, Maha S.
Affiliation
  • Elbendary HM; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • Marafi D; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.
  • Saad AK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Elhossini R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Duan R; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • Rafat K; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Gibbs RA; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • Pehlivan D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Posey JE; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Zaki MS; Texas Children's Hospital, Houston, Texas, USA.
Clin Genet ; 104(3): 344-349, 2023 09.
Article in En | MEDLINE | ID: mdl-37157980
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Male Language: En Journal: Clin Genet Year: 2023 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Male Language: En Journal: Clin Genet Year: 2023 Document type: Article Affiliation country: Country of publication: