Publications by authors named "Paula Lall"
Article Synopsis
- Critical genes like LMX1B are crucial for embryonic development, specifically influencing the growth of limbs, eyes, and kidneys; mutations can lead to Nail-Patella syndrome.
- While most known genetic variants are found in the LMX1B coding sequence, about 5%-10% of individuals with Nail-Patella syndrome do not show any identifiable mutations in this area.
- This study highlights a family with four members affected by a de novo deletion in an upstream region that influences the LMX1B gene, showing symptoms primarily in nails and limbs, suggesting a milder form of the syndrome compared to the classic presentation that also includes eye and kidney issues.
