论文信息 - Identification of one novel homozygous mutation in the NPR2 gene in a patient from Taiwan with acromesomelic dysplasia Maroteaux type. - 字舞流文

Identification of one novel homozygous mutation in the NPR2 gene in a patient from Taiwan with acromesomelic dysplasia Maroteaux type.

F. Tsai | C. Wang | Wei‑De Lin | Wei-De Lin

[1] S. Basit,et al. Genetics of human isolated acromesomelic dysplasia. , 2016, European journal of medical genetics.

[2] T. Cho,et al. Overgrowth syndrome associated with a gain‐of‐function mutation of the natriuretic peptide receptor 2 (NPR2) gene , 2014, American journal of medical genetics. Part A.