换一批Hyperphosphatasia with mental retardation syndrome, expanded phenotype of <i>PIGL</i> related disorders.
第一作者：
Ruqaiah,Altassan
第一单位：
Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada.
作者：
关键词
ALP, alkaline phosphataseCHIME syndromeCHIME, ocular colobomas, heart defect, ichthyosis, mental retardation, and abnormal ears or epilepsyCSS, Coffin-Siris syndromeGPI biogenesisGPI, glycosylphosphatidylinositolHPMRS, hyperphosphatasia with mental retardation syndromeHyperphosphatasia mental retardation syndrome (HPMRS)Mabry syndromePIGL genePIGL, phosphatidylinositol glycan anchor biosynthesis class L
DOI
10.1016/j.ymgmr.2018.01.007
PMID
30023290
发布时间
2020-10-01
- 浏览8
Molecular genetics and metabolism reports
2018年15卷
46-49页
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