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Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.
Lohan S, Spielmann M, Doelken SC, Flöttmann R, Muhammad F, Baig SM, Wajid M, Hülsemann W, Habenicht R, Kjaer KW, Patil SJ, Girisha KM, Abarca-Barriga HH, Mundlos S, Klopocki E. Lohan S, et al. Among authors: wajid m. Clin Genet. 2014 Oct;86(4):318-25. doi: 10.1111/cge.12352. Epub 2014 Feb 17. Clin Genet. 2014. PMID: 24456159
Compound heterozygous ASPM mutations in Pakistani MCPH families.
Muhammad F, Mahmood Baig S, Hansen L, Sajid Hussain M, Anjum Inayat I, Aslam M, Anver Qureshi J, Toilat M, Kirst E, Wajid M, Nürnberg P, Eiberg H, Tommerup N, Kjaer KW. Muhammad F, et al. Among authors: wajid m. Am J Med Genet A. 2009 May;149A(5):926-30. doi: 10.1002/ajmg.a.32749. Am J Med Genet A. 2009. PMID: 19353628
113 results