Article
Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency.
The Journal of clinical endocrinology and metabolism - 16 Jun 2022
Tantirukdham Nithiphut, Sahakitrungruang Taninee, Chaisiwamongkol Ratikorn, Pongpanich Monnat, Srichomthong Chalurmpon, Assawapitaksakul Adjima, Buasong Aayalida, Tongkobpetch Siraprapa, Yeetong Patra, Shotelersuk Vorasuk
Abstract excerpt
CONTEXT: Congenital adrenal hyperplasia is most commonly caused by 21-hydroxylase deficiency (21-OHD), an autosomal recessive disorder resulting from biallelic pathogenic variants (PVs) in CYP21A2. With a highly homologous pseudogene and various types of single nucleotide and complex structural variants, identification of PVs in CYP21A2 has been challenging. OBJECTIVE: To leverage long-read next-generation...
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