Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome
Ja Hye Kim, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi
Ann Pediatr Endocrinol Metab. 2023;28(2):77-86.   Published online 2023 Jun 30     DOI: https://doi.org/10.6065/apem.2346108.054
Citations to this article as recorded by Crossref logo
Navigating the Complex Landscape of CYP21A2 Variants
Sudhisha Dubey, Neerja Gupta
Indian Journal of Pediatrics.2024; 91(2): 113.     CrossRef
Congenital Adrenal Hyperplasia – A Comprehensive Review of Genetic Studies on 21-Hydroxylase Deficiency from India
Lavanya Ravichandran, Hesarghatta S. Asha, Sarah Mathai, Nihal Thomas, Aaron Chapla
Indian Journal of Endocrinology and Metabolism.2024; 28(2): 117.     CrossRef
Advocating Targeted Sequential Screening over Whole Exome Sequencing in 21-Hydroxylase Deficiency
Lavanya Ravichandran, Shriti Paul, A. Rekha, Deny Varghese, R Parthiban, H.S. Asha, Sarah Mathai, Anna Simon, Sumita Danda, Nihal Thomas, Aaron Chapla
Indian Journal of Pediatrics.2024;[Epub]     CrossRef
HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review
Shuang Li, Jia-Jia Lei, Bai-Xue Dong, Yi Ren, Jing Yang
Medicine.2023; 102(39): e35144.     CrossRef