Associated Papers
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.
Lipiński P et al.
Diagnostics (basel, Switzerland), 2021
ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients.
Dercksen M et al.
Jimd Reports, 2013
[Analysis on gene mutations in a Chinese pedigree with autosomal dominant inheritance cataract].
Yan M et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2009
The achiasmia spectrum: congenitally reduced chiasmal decussation.
Sami DA et al.
The British Journal of Ophthalmology, 2005
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient.
Sun L et al.
American Journal of Medical Genetics. Part A, 2005
[Investigation on 82 families with congenital cataract].
Jin YZ
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 1983
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