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CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
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CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age. Hum Mutat. 2020 03; 41(3):655-667.
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PubMed
subject areas
Amino Acid Sequence
Bone and Bones
Congenital Disorders of Glycosylation
Facies
Female
Genetic Association Studies
Genetic Predisposition to Disease
High-Throughput Nucleotide Sequencing
Humans
Infant, Newborn
Loss of Function Mutation
Male
Musculoskeletal Abnormalities
Mutation
Mutation, Missense
N-Acetylgalactosaminyltransferases
Pedigree
Phenotype
authors with profiles
Kristen L. Deak