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Article

First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy.

Clinical biochemistry - 1 Dec 2007

Concolino Paola, Corsello Salvatore, Carrozza Cinzia, Minucci Angelo, Santonocito Concetta, Lovicu Rosa Maria, Santini Stefano Angelo, Ameglio Franco, Zuppi Cecilia, Capoluongo Ettore

Abstract excerpt

OBJECTIVES: To report a first case of 21-hydroxylase deficiency associated with a new genotype determined by V281+I172N/V281L mutations of the CYP21A2 gene. DESIGN AND METHODS: Direct genetic sequencing of CYP21A2 gene was performed. RESULTS: Both siblings had the same genotype, namely V281+I172N/V281L, while their parents resulted as V281L and V281+I172N carriers, respectively. CONCLUSIONS: V281+I172N/V281L...

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Identifiers

PMID: 18028896
DOI: 10.1016/j.clinbiochem.2007.09.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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