Case Report: Precision genetic diagnosis in a case of Dyggve-Melchior-Clausen syndrome reveals paternal isodisomy and heterodisomy of chromosome 18 with imprinting clinical implications

A twelve-year-old patient with a previous clinical diagnosis of spondylocostal skeletal dysplasia and moderate intellectual disability was genetically analyzed through next generation sequencing of a targeted gene panel of 179 genes associated to skeletal dysplasia and mucopolysaccharidosis in order...

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Detalles Bibliográficos
Autores principales: López-Garrido, María-Pilar, Carrascosa-Romero, María-Carmen, Montero-Hernández, Minerva, Serrano-Martínez, Caridad-María, Sánchez-Sánchez, Francisco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9716064/
https://www.ncbi.nlm.nih.gov/pubmed/36468000
http://dx.doi.org/10.3389/fgene.2022.1005573

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9716064/
https://www.ncbi.nlm.nih.gov/pubmed/36468000
http://dx.doi.org/10.3389/fgene.2022.1005573

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