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

Abstract 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...

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Principais autores: Olivia J. Veatch (Autor), Jacob Steinle (Autor), Waheeda A. Hossain (Autor), Merlin G. Butler (Autor)
Formato: Livro
Publicado em: BMC, 2022-08-01T00:00:00Z.
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