Dr. Jacqueline Harris, a pediatric neurologist and director of Kennedy Krieger’s Epigenetics Clinic, received a $125,000 grant from the Kabuki Syndrome Foundation (KSF) for her research efforts into ...

A boy of 3 months of age presented to the paediatricians with developmental delay and failure to thrive. Peculiar facial features with long palpebral fissures and eversion of the lateral portion of ...

Scientists have known for years that mutations in the MLL4 gene can cause Kabuki syndrome, a rare developmental disorder. But a study published on Jan. 11 in Nature Communications illuminates new ...

Jennifer Cooney knew something was wrong with her youngest son's health in the first several months of his life, even though medical professionals around her kept insisting everything was fine. Cooney ...

"She’s certainly sassy and strong-willed," mom told "GMA." A toddler who had trouble getting around with her oxygen tank is now getting help from a kind group of sixth grade students. Emmett Hightshoe ...

MADRID, Spain and CAMBRIDGE, Mass., Sept. 21, 2021 (GLOBE NEWSWIRE) -- Oryzon Genomics, S.A. (ISIN Code: ES0167733015, ORY), a clinical-stage biopharmaceutical company leveraging epigenetics to ...

Using a new, rapid and less expensive DNA sequencing strategy, scientists have discovered genetic alterations that account for most cases of Kabuki syndrome, a rare disorder that causes multiple birth ...

Scientists have known for years that mutations in the MLL4 gene can cause Kabuki syndrome, a rare developmental disorder. But a study published on Jan. 11 in Nature Communications illuminates new ...

Kabuki syndrome is a rare, multisystemic disorder that causes delays in growth, distinctive facial features, short stature, and various other symptoms including immunological and renal disorders.

BUFFALO, N.Y. — Scientists have known for years that mutations in the MLL4 gene can cause Kabuki syndrome, a rare developmental disorder. But a study published on Jan. 11 in Nature Communications ...