Further defining the phenotypic spectrum of B4GALT7 mutations

American Journal of Medical Genetics, Part A

Volumn 170, Issue 6, 2016, Pages 1556-1563

  Salter, Claire G ^a   Davies, Justin H ^b   Moon, Rebecca J ^b   Fairhurst, Joanna ^b   Bunyan, David ^c   Foulds, Nicola ^b  

^a BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^b UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^c SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^d WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

B4GALT7; Galactosyltransferases; Linkeropathy; Progeroid Ehlers Danlos syndrome; Proteoglycans

Indexed keywords

ARTICLE; B4GALT7 GENE; BONE RADIOGRAPHY; CASE REPORT; CHILD; DISEASE SEVERITY; EHLERS DANLOS SYNDROME; EXOPHTHALMOS; FACE MALFORMATION; FACIES; FEMALE; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPERMETROPIA; INFANT; JOINT LAXITY; MALE; OSTEOPENIA; PHENOTYPE; PRIORITY JOURNAL; RADIOULNAR SYNOSTOSIS; SCHOOL CHILD; SHORT STATURE; SYNOSTOSIS; AMINO ACID SUBSTITUTION; BONE DENSITY; CODON; ECHOCARDIOGRAPHY; EHLERS-DANLOS SYNDROME; GENETIC ASSOCIATION STUDY; GENETICS; MUTATION; NEWBORN; RADIOGRAPHY; SYNDROME;

CODON; GALACTOSYLTRANSFERASE; XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE;

AMINO ACID SUBSTITUTION; BONE DENSITY; CODON; ECHOCARDIOGRAPHY; EHLERS-DANLOS SYNDROME; FACIES; FEMALE; GALACTOSYLTRANSFERASES; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PHENOTYPE; RADIOGRAPHY; SYNDROME;

EID: 84959562189     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37604     Document Type: Article

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