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

Faletra, Flavio
•
Athanasakis, Emmanouil
•
Minen, Federico
altro
Gasparini, Paolo
2011
  • other

Abstract
n/a
DOI
10.3109/13816810.2011.587082
Archivio
http://hdl.handle.net/11368/2935136
info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-80054860616
Diritti
metadata only access
Soggetti
  • C.1020+1G>A

  • novel mutation

  • Peters plus syndrome

  • B3GALTL

  • vertebral schisi

  • Abnormalities, Multip...

  • Alternative Splicing

  • Child, Preschool

  • Cleft Lip

  • Consanguinity

  • Cornea

  • Female

  • Galactosyltransferase...

  • Glucosyltransferase

  • Growth Disorder

  • Human

  • Limb Deformities, Con...

  • Spine

  • Point Mutation

  • Ophthalmology

  • Pediatrics, Perinatol...

  • Genetics (clinical)

Scopus© citazioni
9
Data di acquisizione
Jun 14, 2022
Vedi dettagli
Web of Science© citazioni
10
Data di acquisizione
Mar 27, 2024
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