MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects

Molecular Syndromology

Volumn 6, Issue 2, 2015, Pages 58-62

  Hoffjan, Sabine ^a   Epplen, Jörg T ^a   Reis, André ^b   Abou Jamra, Rami ^b  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

CDG syndrome; Intellectual disability; MAN1B1; Mental retardation

Indexed keywords

PROTEIN; PROTEIN MAN1B1; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2; CONVERGENT STRABISMUS; EXOME; FACE DYSMORPHIA; FACIES; FEMALE; FRAGILE X SYNDROME; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HOMOZYGOTE; HUMAN; HYPERGLYCEMIA; INTELLECTUAL IMPAIRMENT; KARYOTYPING; MALE; MEDICAL GENETICS; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OBESITY; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SCHOOL CHILD;

EID: 84937963121     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000371399     Document Type: Article

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