A case of 22q11.2 deletion syndrome with right microphthalmia and left corneal staphyloma. [electronic resource]
Producer: 20150420Description: 248-51 p. digitalISSN:- 1744-5094
- Abnormalities, Multiple
- Aphakia -- congenital
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 22 -- genetics
- Consanguinity
- Corneal Diseases -- diagnosis
- Developmental Disabilities -- diagnosis
- DiGeorge Syndrome -- diagnosis
- Growth Disorders -- diagnosis
- Heart Septal Defects, Ventricular -- diagnosis
- Humans
- In Situ Hybridization, Fluorescence
- Kidney -- abnormalities
- Magnetic Resonance Imaging
- Male
- Microphthalmos -- diagnosis
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Publication Type: Case Reports; Journal Article
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