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| The first case of novel variants of the FSHR mutation causing primary amenorrhea in 2 siblings in Korea | |
| Sukdong Yoo, Ju Young Yoon, Changwon Keum, Chong Kun Cheon | |
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Ann Pediatr Endocrinol Metab. 2023;28(1):54-60. Published online January 18, 2022 DOI: https://doi.org/10.6065/apem.2142116.058 |
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The first case of novel variants of the FSHR mutation causing primary amenorrhea in 2 siblings in Korea Annals of Pediatric Endocrinology & Metabolism. 2023;28(1):54-60  Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma PLOS ONE. 2022;17(9):e0274335 A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy . 2022; A Novel Compound Heterozygous Mutation of FSHR Causes Primary Ovarian Insufficiency . 2020; Novel FSHR variants causing female resistant ovary syndrome Molecular Genetics & Genomic Medicine. 2019;8(2): Identification of novel mutation causing Niemann-Pick type C in two Finnish siblings Molecular Genetics and Metabolism. 2014;111(2):S54-S55 Disease-causing Enhancer Variants: A Question of Penetrance Human Mutation. 2014;35(3):v-v A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy BMC Ophthalmology. 2022;22(1): A novel insertion-induced frameshift mutation of the androgen receptor gene in a patient with primary amenorrhea Meta Gene. 2014;2:11-15 Predicting Severity of Disease-Causing Variants Human Mutation. 2017;38(4):357-364 |
