Long read sequencing on its way to the routine diagnostics of genetic diseases
The clinical application of technological progress in the identification of DNA alterations has
always led to improvements of diagnostic yields in genetic medicine. At chromosome side …
always led to improvements of diagnostic yields in genetic medicine. At chromosome side …
[HTML][HTML] Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome
JH Kim, GH Kim, HW Yoo, JH Choi - Annals of Pediatric …, 2023 - ncbi.nlm.nih.gov
Congenital adrenal hyperplasia (CAH) is a group of autosomally recessive disorders that
result from impaired synthesis of glucocorticoid and mineralocorticoid. Most cases (~ 95%) …
result from impaired synthesis of glucocorticoid and mineralocorticoid. Most cases (~ 95%) …
Long-Read Sequencing Solves Complex Structure of CYP21A2 in a Large 21-Hydroxylase Deficiency Cohort
R Wang, X Luo, Y Sun, L Liang, A Mao… - The Journal of …, 2024 - academic.oup.com
Context Genetic testing for 21-hydroxylase deficiency (21-OHD) is always challenging.
Current approaches, short-read sequencing and multiplex ligation-dependent probe …
Current approaches, short-read sequencing and multiplex ligation-dependent probe …
Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification …
D Yuan, R Cai, A Mao, J Tan, Q Zhong, D Zeng… - The Journal of Molecular …, 2024 - Elsevier
Genetic analysis of congenital adrenal hyperplasia (CAH) has been challenging because of
high homology between CYP21A2 and its pseudogene CYP21A1P. This study aimed to …
high homology between CYP21A2 and its pseudogene CYP21A1P. This study aimed to …
Targeted long-read sequencing identifies missing pathogenic variant in unsolved 11β-hydroxylase deficiency
J Liu, H Tian, X Jin, Y Wang, Z Zhang, M Li, L Dai… - 2024 - researchsquare.com
Purpose 11β-hydroxylase deficiency (11β-OHD), caused by homozygosity or compound
heterozygosity CYP11B1 mutations, is the second most common cause of congenital …
heterozygosity CYP11B1 mutations, is the second most common cause of congenital …