Coffin-Siris综合征伴糖尿病一例报道

[1] Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype [J]. HUMAN GENETICS, 2017, 136 (03) : 297 - 305

[2] Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene[J] . Fatma Mujgan Sonmez,Eyyup Uctepe,Mehmet Gunduz,Zeliha Gormez,Seval Erpolat,Murat Oznur,Mahmut Samil Sagiroglu,Huseyin Demirci,Esra Gunduz. Intractable & Rare Diseases Research . 2016 (3)

[3] Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.[J] . Vals Mari-Anne,?iglane-Shlik,Eve,N?ukas Margit,Shor Riina,Peet Aleksandr,Kals Mart,Kivistik Paula Ann,Metspalu Andres,?unap,Katrin. European journal of human genetics : EJHG . 2014 (11)

[4] Haploinsufficiency of ARID1B , a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability[J] . Juliane Hoyer,Arif B. Ekici,Sabine Endele,Bernt Popp,Christiane Zweier,Antje Wiesener,Eva Wohlleber,Andreas Dufke,Eva Rossier,Corinna Petsch,Markus Zweier,Ina G?hring,Alexander M. Zink,Gudrun Rappold,Evelin Schr?ck,Dagmar Wieczorek,Olaf Riess,Hartmut Engels,Anita Rauch,André Reis. The American Journal of Human Genetics . 2012 (3)

[5] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome [J]. NATURE GENETICS, 2012, 44 (04) : 376 - 378

[6] Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome [J]. NATURE GENETICS, 2012, 44 (04) : 379 - 380

[1] Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype [J]. HUMAN GENETICS, 2017, 136 (03) : 297 - 305

[2] Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene[J] . Fatma Mujgan Sonmez,Eyyup Uctepe,Mehmet Gunduz,Zeliha Gormez,Seval Erpolat,Murat Oznur,Mahmut Samil Sagiroglu,Huseyin Demirci,Esra Gunduz. Intractable & Rare Diseases Research . 2016 (3)

[3] Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.[J] . Vals Mari-Anne,?iglane-Shlik,Eve,N?ukas Margit,Shor Riina,Peet Aleksandr,Kals Mart,Kivistik Paula Ann,Metspalu Andres,?unap,Katrin. European journal of human genetics : EJHG . 2014 (11)

[4] Haploinsufficiency of ARID1B , a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability[J] . Juliane Hoyer,Arif B. Ekici,Sabine Endele,Bernt Popp,Christiane Zweier,Antje Wiesener,Eva Wohlleber,Andreas Dufke,Eva Rossier,Corinna Petsch,Markus Zweier,Ina G?hring,Alexander M. Zink,Gudrun Rappold,Evelin Schr?ck,Dagmar Wieczorek,Olaf Riess,Hartmut Engels,Anita Rauch,André Reis. The American Journal of Human Genetics . 2012 (3)

[5] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome [J]. NATURE GENETICS, 2012, 44 (04) : 376 - 378

[6] Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome [J]. NATURE GENETICS, 2012, 44 (04) : 379 - 380