Total serum immunoglobulin (Ig)E levels are genetically regulated, but the mechanism of
inheritance is not well understood. Cytokines produced by T-helper (Th)1 and Th2 lymphocytes …

Lymphedema-distichiasis (LD) is an autosomal dominant disorder that classically presents
as lymphedema of the limbs, with variable age at onset, and double rows of eyelashes (…

Background: Increased levels of total serum IgE are a strong risk factor for the development
of asthma. IgE is also involved in host defenses against parasites and fungi. Linkage of total …

Thioredoxin 2 (Trx-2) is a small redox protein containing the thioredoxin active site Trp-Cys-Gly-Pro-Cys
that is localized to the mitochondria by a mitochondrial leader sequence and …

Individuals with severe, sporadic disorders of infantile onset represent an important class of
disease for which discovery of the underlying genetic architecture is not amenable to …

Background: Rothmund–Thomson syndrome (RTS) is an autosomal recessive disorder
associated with an increased predisposition to osteosarcoma. Children with RTS typically …

Purpose The management of epilepsy in children is particularly challenging when seizures
are resistant to antiepileptic medications, or undergo many changes in seizure type over time…

We identified homozygous truncating mutations in HOXA1 in three genetically isolated human
populations. The resulting phenotype includes horizontal gaze abnormalities, deafness, …

Niemann-Pick type C (NPC) is a neurodegenerative disorder characterized by greatly altered
somatic cholesterol metabolism. The NPC1 gene has recently been cloned and shown to …

Purpose Williams-Beuren syndrome is among the most well-characterized microdeletion
syndromes, caused by recurrent de novo microdeletions at 7q11.23 mediated by nonallelic …