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Article

MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.

European journal of medical genetics - 1 Feb 2019

Balasubramanian Meena, Johnson Diana S

Abstract excerpt

BACKGROUND: Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases due to impaired lipid and protein glycosylation. It comprises a characteristic high frequency of intellectual disability (ID) and a wide range of clinical phenotypes. OBJECTIVE: To identify the underlying diagnosis in two families each with two siblings with variable level of ID through trio whole exome sequencing....

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PMID: 29908352
DOI: 10.1016/j.ejmg.2018.06.011

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