- Tytuł:
- A case of 22q11.2 deletion syndrome with right microphthalmia and left corneal staphyloma.
- Autorzy:
- Źródło:
- Ophthalmic genetics [Ophthalmic Genet] 2014 Dec; Vol. 35 (4), pp. 248-51. Date of Electronic Publication: 2013 Jul 08.
- Typ publikacji:
- Case Reports; Journal Article
- MeSH Terms:
-
Abnormalities, Multiple *
Chromosome Deletion*
Chromosomes, Human, Pair 22/*genetics
Corneal Diseases/*genetics
DiGeorge Syndrome/*genetics
Microphthalmos/*genetics
Aphakia/congenital ; Aphakia/diagnosis ; Child, Preschool ; Consanguinity ; Corneal Diseases/diagnosis ; Developmental Disabilities/diagnosis ; Developmental Disabilities/genetics ; DiGeorge Syndrome/diagnosis ; Growth Disorders/diagnosis ; Growth Disorders/genetics ; Heart Septal Defects, Ventricular/diagnosis ; Heart Septal Defects, Ventricular/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Kidney/abnormalities ; Magnetic Resonance Imaging ; Male ; Microphthalmos/diagnosis
Czasopismo naukowe