Article
Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease.
Genes - 29 Sept 2021
Sayed Amr Khalda, El-Bassyouni Hala T, Abdel Hady Sawsan, Mostafa Mostafa I, Mehrez Mennat I, Coviello Domenico, El-Kamah Ghada Y
Abstract excerpt
Pycnodysostosis is a rare autosomal recessive disorder with characteristic diagnostic manifestations. This study aims to phenotype and provide molecular characterization of Egyptian patients, with emphasis on identifying unusual phenotypes and raising awareness about pycnodysostosis with different presentations to avoid a mis- or under-diagnosis and consequent mismanagement. We report on 22 Egyptian...
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