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A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth.
Feng, Biyun; Chang, Guoying; Zhang, Qianwen; Li, Xin; Tang, Yijun; Gu, Shili; Wang, Yirou; Wang, Jian; Wang, Xiumin.
Afiliación
  • Feng B; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
  • Chang G; Center for Brain Science, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
  • Zhang Q; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
  • Li X; Center for Brain Science, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
  • Tang Y; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
  • Gu S; Center for Brain Science, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
  • Wang Y; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
  • Wang J; Center for Brain Science, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
  • Wang X; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Mol Genet Genomic Med ; 10(6): e1951, 2022 06.
Article en En | MEDLINE | ID: mdl-35434947
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enanismo / Braquidactilia / Microcefalia Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Child / Female / Humans País/Región como asunto: Asia Idioma: En Revista: Mol Genet Genomic Med Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enanismo / Braquidactilia / Microcefalia Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Child / Female / Humans País/Región como asunto: Asia Idioma: En Revista: Mol Genet Genomic Med Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos