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CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.
Otaify, Ghada A; Elhossini, Rasha M; Abdel-Ghafar, Sherif F; Sayed, Inas M; Abdel-Salam, Ghada M H; Aglan, Mona S; Abdel-Hamid, Mohamed S.
Afiliação
  • Otaify GA; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • Elhossini RM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • Abdel-Ghafar SF; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • Sayed IM; Orodental Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • Aglan MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Am J Med Genet A ; 191(8): 2100-2112, 2023 08.
Article em En | MEDLINE | ID: mdl-37183573
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Nanismo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Egito
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Nanismo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Egito