We found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleGenotype-Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2.AuthorsBornholdt, Dorothea; Atkinson, T. Prescott; Bouadjar, Bakar; Catteau, Benoit; Cox, Helen; Silva, Deepthi; Fischer, Judith; Gunasekera, Chalukya N.; Hadj‐Rabia, Smaïl; Happle, Rudolf; Holder‐Espinasse, Muriel; Kaminski, Elke; König, Arne; Mégarbané, André; Mégarbané, Hala; Neidel, Ulrike; Oeffner, Frank; Oji, Vinzenz; Theos, Amy; Traupe, HeikoPublicationHuman Mutation, 2013, Vol 34, Issue 4, p587ISSN1059-7794Publication typearticleDOI10.1002/humu.22275