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Missense mutations in FBN1 exons 41 and 42 cause Weill–Marc..:

Cecchi, Alana ; Ogawa, Naomi ; Martinez, Hugo R....
American Journal of Medical Genetics Part A.  161 (2013)  9 - p. 2305-2310 , 2013
Link: https://doi.org/10.1002/ajmg.a.36044