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[Posterior embryotoxon confirming the phenotypic-genotypic relationship in a case of Alagille syndrome].
- Source :
-
Journal francais d'ophtalmologie [J Fr Ophtalmol] 2019 Dec; Vol. 42 (10), pp. e453-e454. Date of Electronic Publication: 2019 Aug 01. - Publication Year :
- 2019
- Subjects :
- Alagille Syndrome diagnosis
Alagille Syndrome pathology
Child
Corneal Opacity diagnostic imaging
Delayed Diagnosis
Facies
Female
Genetic Association Studies
Humans
Mutation, Missense
Point Mutation
Pulmonary Valve Stenosis genetics
Slit Lamp
Thoracic Vertebrae abnormalities
Ursodeoxycholic Acid therapeutic use
Vitamin D therapeutic use
Alagille Syndrome genetics
Corneal Opacity genetics
Receptor, Notch2 genetics
Subjects
Details
- Language :
- French
- ISSN :
- 1773-0597
- Volume :
- 42
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- Journal francais d'ophtalmologie
- Publication Type :
- Report
- Accession number :
- 31377001
- Full Text :
- https://doi.org/10.1016/j.jfo.2019.06.005