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Human Genetics|December 12, 2013
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndromeR S Møller, L R Jensen, S M Maas, et al.Journal of Medical Genetics|December 20, 2011
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial featuresAnna-Maja Molin, J Andrieux, D A Koolen, et al.Molecular Syndromology|November 4, 2010
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS SignL Desmyter, M Ghassibe, N Revencu, et al.American Journal of Human Genetics|December 12, 2000
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and IIIH J Lüdecke, J Schaper, P Meinecke, et al.Clinical Genetics|March 26, 2018
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French casesS Baer, A Afenjar, T Smol, et al.Clinical Genetics|October 27, 2015
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and managementM Avila, D A Dyment, J V Sagen, et al.Nature|February 5, 2010
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2R G Walters, S Jacquemont, A Valsesia, et al.Pageof 38