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Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS.
Farooq M, Troelsen JT, Boyd M, Eiberg H, Hansen L, Hussain MS, Rehman Su, Azhar A, Ali A, Bakhtiar SM, Tommerup N, Baig SM, Kjaer KW. Farooq M, et al. Among authors: baig sm. Eur J Hum Genet. 2010 Jun;18(6):733-6. doi: 10.1038/ejhg.2009.225. Epub 2010 Jan 13. Eur J Hum Genet. 2010. PMID: 20068592 Free PMC article.
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.
Fröjmark AS, Schuster J, Sobol M, Entesarian M, Kilander MBC, Gabrikova D, Nawaz S, Baig SM, Schulte G, Klar J, Dahl N. Fröjmark AS, et al. Among authors: baig sm. Am J Hum Genet. 2011 Jun 10;88(6):852-860. doi: 10.1016/j.ajhg.2011.05.013. Am J Hum Genet. 2011. PMID: 21665003 Free PMC article.
148 results