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

European Journal of Medical Genetics

Volumn 62, Issue 2, 2019, Pages 109-114

  Balasubramanian, Meena ^a,b   Johnson, Diana S ^a  

^a SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^b UNIVERSITY OF SHEFFIELD   (United Kingdom)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

Glycosylation; Intellectual disability; Obesity; Syndromal; Transferrins

Indexed keywords

MANNOSIDASE; MANNOSIDASE 1B1; TRANSFERRIN; UNCLASSIFIED DRUG; ALPHA MANNOSIDASE;

AGGRESSION; ARTICLE; BRAIN RADIOGRAPHY; CASE REPORT; CHILD; CHROMOSOME BREAKAGE; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; COMPUTER MODEL; CONGENITAL DISORDER OF GLYCOSYLATION; CORTICAL DYSPLASIA; DEVELOPMENTAL DELAY; DEVELOPMENTAL DISORDER; FEMALE; FRONTAL BOSSING; GENETIC ANALYSIS; GENETIC VARIABILITY; HEAD CIRCUMFERENCE; HUMAN; HYPERMETROPIA; HYPERTELORISM; ISOELECTRIC FOCUSING; MALE; MOLECULAR DIAGNOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PERIVENTRICULAR HETEROTOPIA; PHENOTYPE; PIGEON THORAX; PRESCHOOL CHILD; SANGER SEQUENCING; SCHOOL CHILD; SYNDACTYLY; TRANSFERRIN BLOOD LEVEL; TREMOR; WHOLE EXOME SEQUENCING; CRANIOFACIAL MALFORMATION; GENETICS; MUTATION; PATHOLOGY; SYNDROME;

ALPHA-MANNOSIDASE; CHILD; CONGENITAL DISORDERS OF GLYCOSYLATION; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; SYNDROME;

EID: 85048540162     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2018.06.011     Document Type: Article

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