A rare cause for primary amenorrhea: Sporadic perrault syndrome
Author:
Publisher
Medknow
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families;Molecular Biology Reports;2024-07-25
2. Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc;Gynecological Endocrinology;2019-07-05
3. Marfanoid habitus is a nonspecific feature of Perrault syndrome;Clinical Dysmorphology;2017-10
4. An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature;Human Mutation;2016-10-07
5. Expanding the genotypic spectrum of Perrault syndrome;Clinical Genetics;2016-04-01
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