Meier–Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test

Meier–Gorlin syndrome (MGS) is a rare genetic developmental disorder that causes primordial proportional dwarfism, microtia, the absence of or hypoplastic patellae and other skeletal anomalies. Skeletal symptoms overlapping with other syndromes make MGS difficult to diagnose clinically. We describe...

Descripción completa

Detalles Bibliográficos
Autores principales: Nazarenko, Maria S., Viakhireva, Iuliia V., Skoblov, Mikhail Y., Soloveva, Elena V., Sleptcov, Aleksei A., Nazarenko, Ludmila P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9408996/
https://www.ncbi.nlm.nih.gov/pubmed/36012502
http://dx.doi.org/10.3390/ijms23169234

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9408996/
https://www.ncbi.nlm.nih.gov/pubmed/36012502
http://dx.doi.org/10.3390/ijms23169234

Ejemplares similares