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pro vyhledávání: '"Bernice ThamaraiSelvi"'
Autor:
Fouzia Nambiathayil Aboobacker, Renu George, Anne Jennifer Priscilla, Bernice ThamaraiSelvi, Ankan Gupta
Publikováno v:
Pediatric Dermatology. 37:1139-1141
Constitutional mismatch repair deficiency (CMMRD) syndrome results from bi-allelic mutations in DNA mismatch repair genes-MLH1, MSH2, MSH6, or PMS2. We present two siblings with CMMRD having p.Arg802Ter (c.2404C >T) homozygous mutations in PMS2 exon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e020668046ce713f0d773b4609e2154b
https://doi.org/10.1111/pde.14332
https://doi.org/10.1111/pde.14332
