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Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities
National Institutes of Health
Antithrombin III Deficiency
Autosomal recessive inheritance
Blood Coagulation Disorders
Congenital Disorders of Glycosylation
Semantic Scholar uses AI to extract papers important to this topic.
Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing
The Indian journal of medical research
Corpus ID: 51618289
Congenital disorders of glycosylation (CDG) are the groups of disorders that involve multi-organ disease with neurological…
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