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Novel heterozygous GATA3 and SLC34A3 variants in a 6-year-old boy with Barakat syndrome and hypercalciuria.
Yu, Sha; Chen, Wen-Xia; Lu, Wei; Chen, Chao; Ni, Yihua; Duan, Bo; Wang, Bin; Wang, Huijun; Xu, Zheng-Min.
Affiliation
  • Yu S; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, Shanghai, China.
  • Chen WX; Center for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
  • Lu W; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, Shanghai, China.
  • Chen C; Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, Shanghai, China.
  • Ni Y; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, Shanghai, China.
  • Duan B; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, Shanghai, China.
  • Wang B; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, Shanghai, China.
  • Wang H; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, Shanghai, China.
  • Xu ZM; Center for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
Mol Genet Genomic Med ; 8(5): e1222, 2020 05.
Article in En | MEDLINE | ID: mdl-32155322
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Full text: 1 Database: MEDLINE Main subject: Sodium-Phosphate Cotransporter Proteins, Type IIc / GATA3 Transcription Factor / Hypercalciuria / Hearing Loss, Sensorineural / Hypoparathyroidism / Mutation / Nephrosis Type of study: Prognostic_studies Limits: Adult / Child / Humans / Male Language: En Year: 2020 Type: Article
Fulltext
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PubMed Links
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Full text: 1 Database: MEDLINE Main subject: Sodium-Phosphate Cotransporter Proteins, Type IIc / GATA3 Transcription Factor / Hypercalciuria / Hearing Loss, Sensorineural / Hypoparathyroidism / Mutation / Nephrosis Type of study: Prognostic_studies Limits: Adult / Child / Humans / Male Language: En Year: 2020 Type: Article