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Article

Nonclassic steroid 21-hydroxylase deficiency due to a homozygous V281L mutation in CYP21A2 detected by the neonatal mass-screening program in Japan.

Endocrine journal - 1 Dec 2007

Shinagawa Takashi, Horikawa Reiko, Isojima Tsuyoshi, Naiki Yasuhiro, Tanaka Toshiaki, Katsumata Noriyuki

Abstract excerpt

Since 1989, neonatal mass screening for congenital adrenal hyperplasia (CAH) has been carried out in Japan. The mass screening has detected not only the patients with the classic form of steroid 21-hydroxylase deficiency (21-OHD), but also those with the nonclassic (NC) form of 21-OHD, and the mo...

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Source

Identifiers

PMID: 18048990
DOI: 10.1507/endocrj.k07-028

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18048990-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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