RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb‐girdle muscular dystrophy

We see that a multiple methods approach to diagnosis remains necessary in the era of whole genome sequencing. We also observe that reproductive risk genetic counseling can be a motivating factor for further testing along the diagnostic odyssey.

Detalles Bibliográficos
Autores principales: Washington, Camerun, Stolerman, Elliot S., Cooley‐Coleman, Jessica A., Jones, Julie R., Chen‐Deutsch, Xiangwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10082350/
https://www.ncbi.nlm.nih.gov/pubmed/37038535
http://dx.doi.org/10.1002/ccr3.7165

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10082350/
https://www.ncbi.nlm.nih.gov/pubmed/37038535
http://dx.doi.org/10.1002/ccr3.7165

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