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Homozygous Indel Mutation In Cdh11 As The Probable Cause Of Elsahy-Waters Syndrome
(Wiley, 2017)
Two sisters from a consanguineous couple were seen in genetics department for facial dysmorphic features and glaucoma. They both had broad foreheads, hypertelorism, megalocorneas, thick eyebrows with synophrys, flat malar ...
Mutations In The Gene Encoding The Rer Protein Fkbp65 Cause Autosomal-Recessive Osteogenesis Imperfecta
(Cell Press, 2010)
Osteogenesis imperfecta is a clinically and genetically heterogeneous brittle bone disorder that results from defects in the synthesis, structure, or posttranslational modification of type I procollagen. Dominant forms of ...