Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2).
Mitsuo Masuno(Kanagawa Children's Medical Center), Yoshikazu Kuroki(Osaka Metropolitan University), Gen Nishimura(Musashino University), Kiwamu Akagi(Kuwait University), Miki Nakamura(Dokkyo University), K Imaizumi(Hiroshima University), Izumu Saito(Juntendo University)
Cited by 26
Related Papers
Nosology and classification of genetic skeletal disorders: 2010 revision
|American Journal of Medical Genetics Part A|2011|717
Nosology and classification of genetic skeletal disorders: 2019 revision
|American Journal of Medical Genetics Part A|2019|620
Nosology and classification of genetic skeletal disorders: 2015 revision
|American Journal of Medical Genetics Part A|2015|570
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
|Nature Genetics|2013|476
Kabuki make‐up (Niikawa‐Kuroki) syndrome: A study of 62 patients
|American Journal of Medical Genetics|1988|457