| Autor: |
Gupta, Ankan, George, Renu, Aboobacker, Fouzia Nambiathayil, ThamaraiSelvi, Bernice, Priscilla, Anne Jennifer |
| Předmět: |
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| Zdroj: |
Pediatric Dermatology; Nov2020, Vol. 37 Issue 6, p1139-1141, 3p |
| Abstrakt: |
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 14 with typical cutaneous features. This case report highlights the role of the dermatologist in early diagnosis of this condition. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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