Article
Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Nov 2022
Sood Anubhuti, Shamim Uzma, Kharbanda Om P, Kabra Madhulika, Gupta Neerja, Mathur Aradhana, Joshi Aditi, Parveen Shaista, Zahra Sana, Sharma Pooja, Seth Malika, Khan Afreen, Faruq Mohammed, Mishra Deepika
Abstract excerpt
BACKGROUND: Pierre Robin Sequence (PRS) affects approximately 1 per 8500 to 14000 new-borns worldwide. Although the clinical entity is well defined, the pathogenesis of PRS is debated. The present study aims to understand the contribution of genomic imbalances and genetic variants in patients clinically diagnosed of PRS. METHODOLOGY: A total of 7 independent patients with nonsyndromic PRS thoroughly evaluated by a...
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