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

Autor: Sayed Amr K; Molecular Genetics Department, National Research Centre, Cairo 12622, Egypt., El-Bassyouni HT; Clinical Genetics Department, National Research Centre, Cairo 12622, Egypt., Abdel Hady S; Pediatric Department, Cairo University, Cairo 12613, Egypt., Mostafa MI; Oro-Dental Genetics Department, National Research Centre, Cairo 12622, Egypt., Mehrez MI; Oro-Dental Genetics Department, National Research Centre, Cairo 12622, Egypt., Coviello D; Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., El-Kamah GY; Clinical Genetics Department, National Research Centre, Cairo 12622, Egypt.

Publikováno v: Genes [Genes (Basel)] 2021 Sep 29; Vol. 12 (10). Date of Electronic Publication: 2021 Sep 29.