Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2

A 14‐year‐old male presented with a T4 sigmoid adenocarcinoma,

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Bibliographische Detailangaben
Veröffentlicht in:	Pediatric Blood & Cancer 2008-06, Vol.50 (6), p.1268-1270
Hauptverfasser:	Jackson, Carl-Christian, Holter, Spring, Pollett, Aaron, Clendenning, Mark, Chou, Shirley, Senter, Leigha, Ramphal, Raveena, Gallinger, Steven, Boycott, Kym
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosine Triphosphatases - genetics Adolescent Alleles Cafe-au-Lait Spots - complications Cafe-au-Lait Spots - genetics café-au-lait macules Colorectal Neoplasms, Hereditary Nonpolyposis - complications Colorectal Neoplasms, Hereditary Nonpolyposis - genetics DNA Mismatch Repair DNA Repair Enzymes - genetics DNA-Binding Proteins - genetics Germ-Line Mutation Humans inherited cancer syndrome Male Mismatch Repair Endonuclease PMS2 mismatch repair genes Mutation, Missense neurofibromatosis type 1 Pedigree PMS2
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Beschreibung
Zusammenfassung:	A 14‐year‐old male presented with a T4 sigmoid adenocarcinoma,
ISSN:	1545-5009 1545-5017 1096-911X
DOI:	10.1002/pbc.21514