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A small number of individuals with BWS (5\u201310%) have mutations in <jats:italic>CDKN1C<\/jats:italic>, a cyclin\u2010dependent kinase inhibitor of G1 cyclin complexes that functions as a negative regulator of cellular growth and proliferation. Here, we report on eight patients with BWS and <jats:italic>CDKN1C<\/jats:italic> mutations and review previous reported cases. We analyzed 72 patients (50 BWS, 17 with isolated hemihyperplasia (IH), three with omphalocele, and two with macroglossia) for <jats:italic>CDKN1C<\/jats:italic> defects with the aim to search for new mutations and to define genotype\u2013phenotype correlations. Our findings suggest that BWS patients with <jats:italic>CDKN1C<\/jats:italic> mutations have a different pattern of clinical malformations than those with other molecular defects. Polydactyly, genital abnormalities, extra nipple, and cleft palate are more frequently observed in BWS with mutations in <jats:italic>CDKN1C<\/jats:italic>. The clinical observation of these malformations may help to decide which genetic characterization should be undertaken (i.e., <jats:italic>CDKN1C<\/jats:italic> screening), thus optimizing the laboratory evaluation for BWS. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33453","type":"journal-article","created":{"date-parts":[[2010,5,14]],"date-time":"2010-05-14T22:39:38Z","timestamp":1273876778000},"page":"1390-1397","source":"Crossref","is-referenced-by-count":71,"title":["<i>CDKN1C<\/i> (<i>p57<\/i><sup><i>Kip2<\/i><\/sup>) analysis in Beckwith\u2013Wiedemann syndrome (BWS) patients: Genotype\u2013phenotype correlations, novel mutations, and polymorphisms"],"prefix":"10.1002","volume":"152A","author":[{"given":"Valeria","family":"Romanelli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberta","family":"Belinch\u00f3n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Benito\u2010Sanz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor","family":"Mart\u00ednez\u2010Glez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo","family":"Gracia\u2010Bouthelier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen E.","family":"Heath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angel","family":"Campos\u2010Barros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sixto","family":"Garc\u00eda\u2010Mi\u00f1aur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu\u00eds","family":"Fernandez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heloisa","family":"Meneses","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Pedro","family":"L\u00f3pez\u2010Siguero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Encarna","family":"Guill\u00e9n\u2010Navarro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulino","family":"G\u00f3mez\u2010Puertas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan\u2010Jaap","family":"Wesselink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graciela","family":"Mercado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Esteban\u2010Marfil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebeca","family":"Palomo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roc\u00edo","family":"Mena","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurora","family":"S\u00e1nchez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"del Campo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo","family":"Lapunzina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,5,14]]},"reference":[{"key":"e_1_2_6_2_1","article-title":"Extreme cytomegaly of the adrenal fetal cortex, omphalocele, hyperplasia of kidneys and pancreas, and Leydig\u2010cell hyperplasia: Another syndrome? 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