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Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method.
Ye, Yanchou; Li, Weihao; Wang, Guan; Zhan, Longsheng; Lin, Junwei; Li, Tian; Zhang, Jun.
Affiliation
  • Ye Y; Department of Obstetrics and Gynecology, The Seventh Affiliated Hospital Sun Yat-sen University, Shenzhen, China.
  • Li W; Reproductive Medicine Center, The Seventh Affiliated Hospital Sun Yat-sen University, Shenzhen, China.
  • Wang G; Department of Obstetrics and Gynecology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
  • Zhan L; Department of Obstetrics and Gynecology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
  • Lin J; Department of Obstetrics and Gynecology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
  • Li T; Department of Obstetrics and Gynecology, The Seventh Affiliated Hospital Sun Yat-sen University, Shenzhen, China.
  • Zhang J; Department of Obstetrics and Gynecology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
Mol Genet Genomic Med ; 9(10): e1758, 2021 10.
Article in En | MEDLINE | ID: mdl-34423584
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Genetic Predisposition to Disease / Collagen Type X / Alleles / Noninvasive Prenatal Testing / Mutation Type of study: Diagnostic_studies / Guideline / Prognostic_studies Limits: Adult / Aged / Female / Humans / Male / Middle aged / Pregnancy Language: En Journal: Mol Genet Genomic Med Year: 2021 Document type: Article Affiliation country: China Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Genetic Predisposition to Disease / Collagen Type X / Alleles / Noninvasive Prenatal Testing / Mutation Type of study: Diagnostic_studies / Guideline / Prognostic_studies Limits: Adult / Aged / Female / Humans / Male / Middle aged / Pregnancy Language: En Journal: Mol Genet Genomic Med Year: 2021 Document type: Article Affiliation country: China Country of publication: United States