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A novel homozygous variant in exon 10 of the GALNT3 gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India.
Dayal, Devi; Gupta, Shruti; Kumar, Rakesh; Srinivasan, Radhika; Lorenz-Depiereux, Bettina; Strom, Tim M.
Affiliation
  • Dayal D; Endocrinology and Diabetes Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
  • Gupta S; Department of Cytology and Gynaecological Pathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
  • Kumar R; Endocrinology and Diabetes Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
  • Srinivasan R; Department of Cytology and Gynaecological Pathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
  • Lorenz-Depiereux B; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Strom TM; Institute of Human Genetics, Technische Universität München, Munich, Germany.
Intractable Rare Dis Res ; 10(1): 55-57, 2021 Feb.
Article in En | MEDLINE | ID: mdl-33614378
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Intractable Rare Dis Res Year: 2021 Document type: Article Affiliation country: India Country of publication: Japón
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Intractable Rare Dis Res Year: 2021 Document type: Article Affiliation country: India Country of publication: Japón