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Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature.
Li, Jiayi; Zhang, Chuan; Tian, Xinyuan; Zhou, Bingbo; Chen, Xue; Wang, Yupei; Hao, Shengju; Hui, Ling; Meng, Zhaoyan.
Affiliation
  • Li J; First School of Clinical Medical, Gansu University of Chinese Medicine, Lanzhou, China.
  • Zhang C; Gansu Province Maternity and Child Health Care Hospital, Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, China.
  • Tian X; Gansu Province Maternity and Child Health Care Hospital, Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, China.
  • Zhou B; Gansu Province Maternity and Child Health Care Hospital, Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, China.
  • Chen X; Gansu Province Maternity and Child Health Care Hospital, Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, China.
  • Wang Y; Gansu Province Maternity and Child Health Care Hospital, Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, China.
  • Hao S; Gansu Province Maternity and Child Health Care Hospital, Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, China.
  • Hui L; Gansu Province Maternity and Child Health Care Hospital, Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, China.
  • Meng Z; First School of Clinical Medical, Gansu University of Chinese Medicine, Lanzhou, China.
Mol Genet Genomic Med ; 12(1): e2304, 2024 Jan.
Article in En | MEDLINE | ID: mdl-38087819
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Calcinosis / Ear Diseases / Intellectual Disability Limits: Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2024 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Calcinosis / Ear Diseases / Intellectual Disability Limits: Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2024 Document type: Article Affiliation country: Country of publication: