Summary Literature (1)

Xenbase Articles :
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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development., Gordon CT,Xue S,Yigit G,Filali H,Chen K,Rosin N,Yoshiura KI,Oufadem M,Beck TJ,McGowan R,Magee AC,Altmüller J,Dion C,Thiele H,Gurzau AD,Nürnberg P,Meschede D,Mühlbauer W,Okamoto N,Varghese V,Irving R,Sigaudy S,Williams D,Ahmed SF,Bonnard C,Kong MK,Ratbi I,Fejjal N,Fikri M,Elalaoui SC,Reigstad H,Bole-Feysot C,Nitschké P,Ragge N,Lévy N,Tunçbilek G,Teo AS,Cunningham ML,Sefiani A,Kayserili H,Murphy JM,Chatdokmaiprai C,Hillmer AM,Wattanasirichaigoon D,Lyonnet S,Magdinier F,Javed A,Blewitt ME,Amiel J,Wollnik B,Reversade B, Nat Genet. February 1, 2017; 49(2):1546-1718.