Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL

Ophthalmic Genetics

Volumn 32, Issue 4, 2011, Pages 256-258

  Faletra, Flavio ^a   Athanasakis, Emmanouil ^a   Minen, Federico ^a   Fornasier, Federico ^a   Marchetti, Federico ^a   Gasparini, Paolo ^a,b  

^a INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^b UNIVERSITY OF TRIESTE   (Italy)

Author keywords

C.1020+1G>A; novel mutation; Peters plus syndrome; B3GALTL; vertebral schisis

Indexed keywords

GLUCOSYLTRANSFERASE; PROTEIN B3GALTL; THROMBOSPONDIN; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; ANTHROPOMETRIC PARAMETERS; ARTICLE; BRACHYDACTYLY; CASE REPORT; CHILD; CHRONIC KIDNEY FAILURE; CLINICAL FEATURE; COLOBOMA; CONGENITAL CATARACT; CORPUS CALLOSUM; FACE ASYMMETRY; FAMILY HISTORY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LEUKOKORIA; MENINGOMYELOCELE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PETERS ANOMALY; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SPINA BIFIDA;

ABNORMALITIES, MULTIPLE; ALTERNATIVE SPLICING; CHILD, PRESCHOOL; CONSANGUINITY; CORNEA; FEMALE; GALACTOSYLTRANSFERASES; GLUCOSYLTRANSFERASES; GROWTH DISORDERS; HUMANS; LIMB DEFORMITIES, CONGENITAL; POINT MUTATION; SPINE;

EID: 80054860616     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2011.587082     Document Type: Article

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