Named after Dr. Hilde Van Esch, XLID-VE causes intellectual disability and developmental delays mainly in males; carrier testing and counseling are covered here.
Extreme sun sensitivity, neurological abnormalities and growth deficiency combine in XP/CS, a disorder of the nucleotide excision repair pathway that testing can confirm.
Amyloid-beta peptides collecting in the brain and its blood vessels bring cerebral hemorrhage and cognitive decline; APP gene testing identifies the mutation.
Deletions in mitochondrial DNA tied to DGUOK deficiency can bring muscle weakness, neurological problems and liver dysfunction that only appear later in life.
Uncover how genetic testing aids in diagnosing rare Alazami-Yuan syndrome, guiding personalized treatments and empowering families with valuable insights.
Unusually soft enamel raises sensitivity and discoloration in this subtype, and DNA analysis distinguishes IIa6 from other forms of amelogenesis imperfecta.
Hypoplastic and hypomineralized enamel traces back to AMELX, the gene for amelogenin; a newly reported variant shows what sequencing can add to dental care.
A frameshift mutation in the RELT gene disrupts enamel formation, leaving teeth thin, soft and prone to cavities. Genetic testing supports early dental care.