A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.
Frosk, Patrick
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature. [electronic resource] - BMC medical genetics Apr 2015 - 28 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
1471-2350
10.1186/s12881-015-0175-0 doi
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
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature. [electronic resource] - BMC medical genetics Apr 2015 - 28 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
1471-2350
10.1186/s12881-015-0175-0 doi
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