Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies
对一名携带新型GALNS外显子缺失导致莫尔基奥综合征并成功妊娠的患者进行分子建模和表型描述
期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000519326
Selvam, Pavalan; Jain, Angita; Abbott, Jessica; Ahuja, Abhimanyu S; Cheema, Anvir; Bruno, Katelyn A; Atwal, Herjot; Forghani, Irman; Caulfield, Thomas; Atwal, Paldeep S