Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation

Détails

ID Serval
serval:BIB_840CDE35692D
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation
Périodique
Eye
Auteur(s)
Diaper  C. J., Schorderet  D. F., Chaubert  P., Munier  F. L.
ISSN
0950-222X (Print)
Statut éditorial
Publié
Date de publication
01/2005
Volume
19
Numéro
1
Pages
92-6
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Jan
Résumé
A family was previously reported as suffering from severe granular dystrophy. The phenotypic picture suggested a mix of homozygous and heterozygous family members. Genetic analysis confirms the homozygousity in the patients most severely affected, but shows the disease state to be one of Avellino corneal dystrophy. The previous case reports are extended immunohistological staining using polyclonal antibodies raised against keratofepithelin. This genotype/phenotype correlation study is consistent with incomplete dominance.
Mots-clé
Adolescent Child Corneal Dystrophies, Hereditary/*genetics/pathology/surgery Corneal Transplantation/methods Extracellular Matrix Proteins/*genetics Eye Proteins/*genetics Family Health Female Homozygote Humans Male Middle Aged Mutation Pedigree Phenotype Transforming Growth Factor beta/*genetics Visual Acuity/genetics
Pubmed
Web of science
Open Access
Oui
Création de la notice
28/01/2008 13:59
Dernière modification de la notice
20/08/2019 15:43
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