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Article

Regional genotypic variations in normosmic congenital hypogonadotropic hypogonadism: our experience and systematic review.

Pituitary - 1 Jun 2022

Patil Virendra A, Lila Anurag Ranjan, Shah Nalini, Arya Sneha, Ekbote Alka V, Sarathi Vijaya, Shah Ravikumar, Jadhav Swati S, Memon Saba Samad, Bandgar Tushar

Abstract excerpt

PURPOSE: To describe phenotype-genotype data of Asian-Indian normosmic congenital hypogonadotropic hypogonadism (nCHH) from our centre and perform a systematic review of genetic studies using next-generation sequencing (NGS) in nCHH. METHODS: Sixty-eight nCHH probands from our center, and 370 nCHH probands from published studies were included. Per-patient genetic variants were analyzed as per ACMG guidelines....

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PMID: 35133534
DOI: 10.1007/s11102-022-01209-z

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