Alaaeldin Fayez Mona Aglan Nora Esmaiel Taher El Zanaty Mohamed Abdel Kader Mona El Ruby
10.1155/2015/517815
Biomed Res Int
2015;2015:517815.
CC BY
https://pubmed.ncbi.nlm.nih.gov/25984533/
Bone Morphogenetic Proteins / genetics Genetic Markers / genetics Hyperostosis / genetics Mutation / genetics Syndactyly / genetics
Bone Morphogenetic Proteins / genetics Genetic Markers / genetics Hyperostosis / genetics Mutation / genetics Syndactyly / genetics Case Reports Adaptor Proteins, Signal Transducing Adolescent Adult Amino Acid Sequence Base Sequence Bone Morphogenetic Proteins / chemistry Child DNA Mutational Analysis Egypt Family Female Humans Hyperostosis / diagnostic imaging Male Models, Genetic Molecular Sequence Data Mutant Proteins / chemistry Mutant Proteins / metabolism Pedigree Radiography Syndactyly / diagnostic imaging Adaptor Proteins, Signal Transducing Bone Morphogenetic Proteins Genetic Markers Mutant Proteins SOST protein, human Sclerosteosis
PMC4423033
25984533
A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis
2015