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

Balasubramanian, Meena

MAN1B-CDG: Novel variants with a distinct phenotype and review of literature. [electronic resource] - European journal of medical genetics Feb 2019 - 109-114 p. digital

Publication Type: Case Reports; Journal Article; Review

ISSN: 1878-0849

Standard No.: 10.1016/j.ejmg.2018.06.011 doi

Subjects--Topical Terms:
Child
Congenital Disorders of Glycosylation--genetics
Craniofacial Abnormalities--genetics
Developmental Disabilities--genetics
Female
Humans
Male
Mutation
Pedigree
Phenotype
Syndrome
alpha-Mannosidase--genetics

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