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Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?

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Title: Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?
Authors: Suerink M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Potjer TP; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Versluijs AB; Department of Pediatric Hematology, University Medical Centre, Utrecht, The Netherlands., Ten Broeke SW; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Tops CM; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Wimmer K; Division Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Nielsen M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Source: Clinical genetics [Clin Genet] 2018 Jan; Vol. 93 (1), pp. 134-137. Date of Electronic Publication: 2017 Sep 15.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2018 Jan; Vol. 93 (1), pp. 134-137. <i>Date of Electronic Publication: </i>2017 Sep 15.
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