Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study

BACKGROUND: Heritable connective tissue disorders (HCTDs) consist of heterogeneous syndromes. The diagnosis of HCTDs is aided by genomic biotechnologies (e.g., next-generation sequencing panels) facilitating the discovery of novel variants causing disease. METHODS: Detailed clinical exam data and CL...

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Detalles Bibliográficos
Autores principales: Veatch, Olivia J., Steinle, Jacob, Hossain, Waheeda A., Butler, Merlin G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9344629/
https://www.ncbi.nlm.nih.gov/pubmed/35918752
http://dx.doi.org/10.1186/s12920-022-01321-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9344629/
https://www.ncbi.nlm.nih.gov/pubmed/35918752
http://dx.doi.org/10.1186/s12920-022-01321-w

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