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Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis-van Creveld syndrome.
Zhuang, Jianlong; Liu, Shufen; Wang, Junyu; Chen, Yu'e; Zhang, Hegan; Jiang, Yuying; Wang, Gaoxiong; Chen, Chunnuan.
Afiliação
  • Zhuang J; Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, China.
  • Liu S; Department of Neurology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
  • Wang J; Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, China.
  • Chen Y; Department of Ultrasound, Quanzhou Women's and Children's Hospital, Quanzhou, China.
  • Zhang H; Department of Gynecology, Quanzhou Women's and Children's Hospital, Quanzhou, China.
  • Jiang Y; Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, China.
  • Wang G; Quanzhou Women's and Children's Hospital, Quanzhou, China.
  • Chen C; Department of Neurology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Mol Genet Genomic Med ; 11(10): e2242, 2023 Oct.
Article em En | MEDLINE | ID: mdl-37485807
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2023 Tipo de documento: Article País de afiliação: China
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2023 Tipo de documento: Article País de afiliação: China