Article

Genetics of Kallmann syndrome: Single-center Experience with Review of NGS based Genetic Studies

2022-05-17

Abstract excerpt

<h4>Purpose: </h4> To describe phenotype-genotype data of Asian-Indian Kallmann syndrome (KS) from our center and perform a systematic review of genetic studies using next-generation sequencing (NGS) in KS. <h4>Methods: </h4>: Seventy-eight KS probands from our center and 398 probands from published studies were included. Per-patient genetic variants were analyzed as per ACMG-guidelines. Molecular diagnosis was de...

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Literature Corpus work: 24e93bf6-5d81-5524-8920-4b808597c473
DOI: 10.21203/rs.3.rs-1648832/v1

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