Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias

In conclusion, panel sequencing proved to be a highly effective way to decipher the genetic basis of SKDs in highly consanguineous families as well as sporadic and or familial cases from South Asia. Furthermore, our findings expand the allelic spectrum of skeletal dysplasias.PMID:38378010 | DOI:10.1111/cge.14509

Source: Clinical Genetics - February 20, 2024 Category: Genetics & Stem Cells Authors: Naseebullah Kakar Fazal Ur Rehman Ramandeep Kaur Gandham SriLakshmi Bhavani Manisha Goyal Hitesh Shah Karandeep Kaur Kushaljit Singh Sodhi Christian Kubisch Guntram Borck Inusha Panigrahi Katta Mohan Girisha Uwe Kornak Malte Spielmann Source Type: research