A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature. [electronic resource]
Producer: 20150909Description: 28 p. digitalISSN:- 1471-2350
- Calcium-Binding Proteins -- genetics
- Consanguinity
- Craniofacial Abnormalities -- genetics
- DNA Mutational Analysis
- Female
- Genital Diseases, Male -- genetics
- Genotype
- Humans
- Hypoalbuminemia -- genetics
- Infant
- Lymphangiectasis, Intestinal -- genetics
- Lymphatic System -- embryology
- Lymphedema -- genetics
- Pakistan
- Polydactyly -- genetics
- Polymorphism, Single Nucleotide
- Protein-Losing Enteropathies -- genetics
- Tumor Suppressor Proteins -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
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