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

• প্রধান লেখক: Olivia J. Veatch (লেখক), Jacob Steinle (লেখক), Waheeda A. Hossain (লেখক), Merlin G. Butler (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2022-08-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

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...