Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome

BACKGROUND: Meier-Gorlin syndrome (MGS) is a rare genetic syndrome inherited in an autosomal dominant or autosomal recessive manner. The disorder is characterized by bilateral microtia, absence or hypoplasia of the patella, and an intrauterine growth retardation as well as a number of other characte...

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Detalles Bibliográficos
Autores principales: Zabnenkova, Viktoriia, Shchagina, Olga, Makienko, Olga, Matyushchenko, Galina, Ryzhkova, Oxana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8747802/
https://www.ncbi.nlm.nih.gov/pubmed/35023948
http://dx.doi.org/10.2147/TACG.S342804

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8747802/
https://www.ncbi.nlm.nih.gov/pubmed/35023948
http://dx.doi.org/10.2147/TACG.S342804

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