Delineation of dual molecular diagnosis in patients with skeletal deformity.
Liu L, Sun L, Chen Y, Wang M, Yu C, Huang Y, Zhao S, Du H, Chen S, Fan X, Tian W, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group; Qiu G, Zhang TJ, Wu N.
Liu L, et al.
Orphanet J Rare Dis. 2022 Mar 28;17(1):139. doi: 10.1186/s13023-022-02293-x.
Orphanet J Rare Dis. 2022.
PMID: 35346302
Free PMC article.
Patients with dual molecular diagnosis presented blended phenotypes of two genetic diseases. Mendelian disorders occurred more than once include Osteogenesis Imperfecta Type I (COL1A1, MIM:166200), Neurofibromatosis, Type I (NF1, MIM:162200) and Marfan …
Patients with dual molecular diagnosis presented blended phenotypes of two genetic diseases. Mendelian disorders occurred more than once inc …