Oxfordshire toddler diagnosed with rare genetic condition
Turnpenny-Fry syndrome is caused by mutations in the PCGF2 gene.
Source: bicesteradvertiser.net
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Major study helps 5,500 people receive diagnosis for rare genetic conditions
Among them is a two-year-old girl who was diagnosed with a disease that causes severe developmental disorder.
Source: aol.co.uk
Major study helps 5,500 people receive diagnosis for rare genetic conditions
A two-year-old girl with a severe developmental disorder is among the 5,500 people who now know the genetic cause of their condition, thanks to a major UK study.
Source: belfasttelegraph.co.uk