New research by Sumeda Nandadasa, PhD, reveals how a key protein associated with Meckel-Gruber syndrome, nephronophthisis, ...

Jim FessendenUMass Chan Medical SchoolNew research by Sumeda Nandadasa, PhD, reveals how a key protein associated with Meckel-Gruber syndrome ...

New research by Sumeda Nandadasa, Ph.D., reveals how a key protein associated with Meckel-Gruber syndrome, nephronophthisis, ...

Table 2. Follow-up Studies of Infants and Children With Joubert Syndrome [4,5,8,11,31,35,37] Author/Year Type of Study Sample Size Life Span Cognitive Development ...

The original case of Joubert syndrome was followed for 30 years. At 30 years of age, this man had severe dysarthria, but the hyperpnea and apnea had diminished. His abnormal eye movements were ...

At just two years old, Emory Crosdale was diagnosed with joubert syndrome, a rare disease that affects how the brain develops ...

Delhi HC allows woman to medically terminate 30-week pregnancy after prenatal diagnosis of Joubert syndrome The court said the law ensures that women are not compelled to carry such pregnancies to ...

Joubert syndrome is a rare genetic condition that causes underdevelopment in a part of the brain called the cerebellar vermis and malformation of the brainstem. The cerebellar vermis coordinates ...

Shaken baby syndrome, first coined as whiplash shaken infant syndrome in the early 1970s, is cited as the most common cause of death and brain injury resulting from child abuse, according to the ...

A baby born with Meckel-Gruber syndrome will likely survive for just a few days due to the severity of the health issues that this rare, inherited condition causes. Learn more here.

LEWISBURG, Pa. — It's hard not to smile when you meet Winter Martz of Lewisburg. That's what everyone thought as they stopped by the 7 year old's lemonade stand. Winter has Joubert syndrome ...