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Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.
Morel G, Duhamel C, Boussion S, Frénois F, Lesca G, Chatron N, Labalme A, Sanlaville D, Edery P, Thevenon J, Faivre L, Fassier A, Prodhomme O, Escande F, Manouvrier S, Petit F, Geneviève D, Rossi M. Morel G, et al. Among authors: fassier a. Hum Mutat. 2020 Sep;41(9):1499-1506. doi: 10.1002/humu.24070. Epub 2020 Jul 15. Hum Mutat. 2020. PMID: 32598510
Fractures in children younger than 18 months.
Fassier A, Gaucherand P, Kohler R. Fassier A, et al. Orthop Traumatol Surg Res. 2013 Feb;99(1 Suppl):S160-70. doi: 10.1016/j.otsr.2012.11.004. Epub 2013 Jan 3. Orthop Traumatol Surg Res. 2013. PMID: 23290541 Free article. Review.