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Article

Mutation in ALOX12B likely cause of POI and also ichthyosis in a large Iranian pedigree.

Molecular genetics and genomics : MGG - 1 Jul 2020

Alavi Afagh, Darki Faezeh, Bidgoli Mohammad Masoud Rahimi, Zare-Abdollahi Davood, Moini Ashraf, Shahshahani Mostafa M, Fischer Judith, Elahi Elahe

Abstract excerpt

Premature ovarian insufficiency (POI) is a clinically and etiologically heterogeneous disorder characterized by menstrual irregularities and elevated levels of FSH before age of 40 years. Genetic anomalies are among the recognized causes of POI. Here, we aimed to identify the genetic cause of POI in an inbred pedigree with nine POI and two ichthyosis-affected members. Inheritance of POI and ichthyosis were,...

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PMID: 32253496
DOI: 10.1007/s00438-020-01663-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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