Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease

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 p...

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Detalles Bibliográficos
Autores principales: Sayed Amr, Khalda, El-Bassyouni, Hala T., Abdel Hady, Sawsan, Mostafa, Mostafa I., Mehrez, Mennat I., Coviello, Domenico, El-Kamah, Ghada Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535549/
https://www.ncbi.nlm.nih.gov/pubmed/34680947
http://dx.doi.org/10.3390/genes12101552

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