Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome. [electronic resource]
Producer: 20150512Description: 282-6 p. digitalISSN:- 1399-0004
- Agenesis of Corpus Callosum -- genetics
- Arthritis
- Base Sequence
- Collagen Diseases -- genetics
- Connective Tissue Diseases
- Eye -- pathology
- Hearing Loss, Sensorineural -- genetics
- Hernias, Diaphragmatic, Congenital -- genetics
- Humans
- Low Density Lipoprotein Receptor-Related Protein-2 -- genetics
- Magnetic Resonance Imaging
- Molecular Sequence Data
- Mutation, Missense -- genetics
- Myopia -- genetics
- Pedigree
- Phenotype
- Proteinuria -- genetics
- Renal Tubular Transport, Inborn Errors -- genetics
- Retinal Detachment
- Sequence Analysis, DNA
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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