Article
Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.
BMC genomics - 14 Aug 2024
Zouaghi Yassine, Choudhary Anbreen Mazhar, Irshad Saba, Adamo Michela, Rehman Khaleeq Ur, Fatima Ambrin, Shahid Mariam, Najmi Nida, De Azevedo Correa Fernanda, Habibi Imen, Boizot Alexia, Niederländer Nicolas J, Ansar Muhammad, Santoni Federico, Acierno James, Pitteloud Nelly
Abstract excerpt
BACKGROUND/OBJECTIVES: This study aims to elucidate the genetic causes of congenital hypogonadotropic hypogonadism (CHH), a rare genetic disorder resulting in GnRH deficiency, in six families from Pakistan. METHODS: Eighteen DNA samples from six families underwent genome sequencing followed by standard evaluation for pathogenic single nucleotide variants (SNVs) and small indels. All families were subsequently...
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