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Keywords: Rare variant
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Journal Articles

Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature

Subject Area:
Karger e-Journal Backfile Collection 2023 , Genetics
Sinem Kocagil, İkbal Nur Şafak, Elif Saraç, Can Aydın, Sevilhan Artan, Birgül Kırel
Journal: Molecular Syndromology
Mol Syndromol (2023) 14 (6): 509–515.
https://doi.org/10.1159/000531429
Published Online: 04 August 2023
... or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. 2023 RFWD3 Fanconi anemia complementation group W Rare variant Radial ray defects Established Facts Fanconi anemia (FA) is a rare, multisystem disorder which...
View articletitled, Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature
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Journal Articles

Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Tyr370Cys) in NEU1

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Elda Ariadna Flores-Contreras, José Elías García-Ortiz, Carla Daniela Robles-Espinoza, Viviana Zomosa-Signoret, Luis Eduardo Becerra-Solano, Román Vidaltamayo, Carolina Castaneda-García, Eduardo Esparza-García, Christian Molina-Aguilar, Angélica Alejandra Hernández-Orozco, Carlos Córdova-Fletes
Journal: Molecular Syndromology
Mol Syndromol (2021) 12 (4): 250–257.
https://doi.org/10.1159/000515081
Published Online: 17 June 2021
... diagnosis Phenotypic variability Sialidase-1 Rare variant Tridimensional modeling References 1. Annunziata   I , d'Azzo   A . Galactosialidosis: historic aspects and overview of investigated and emerging treatment options . Expert Opin Orphan Drugs . 2017 ; 5 ( 2 ): 131 – 41...
View articletitled, Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Tyr370Cys) in NEU1
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