As a crucial gene associated with diseases, the SLC29A3 gene encodes the equilibrative
nucleoside transporter 3 (ENT3). ENT3 plays an essential regulatory role in transporting …

Abstract Background The SLC29A3 gene, which encodes a nucleoside transporter protein,
is primarily located in intracellular membranes. The mutations in this gene can give rise to …

H syndrome is a rare autosomal recessive disorder with characteristic dermatological
findings consisting of hyperpigmentation and hypertrichosis patches mainly located on the …

Background H syndrome (HS) is a rare autoinflammatory disease caused by a mutation in
the solute carrier family 29, member 3 (SCL29A3) gene. It has a variable clinical …

Equilibrative nucleoside transporter 3 (ENT3), encoded by the SLC29A3 gene, is the major
acidic pH dependent nucleoside transporter responsible for maintaining nucleoside …

Background: High bone mass (HBM) disorders are a group of clinically and genetically
heterogeneous bone diseases characterized by increased bone density on radiographs …

This article focuses on cutaneous hematopoietic neoplasms that are more likely to be
encountered in the pediatric age-group and includes both lymphoproliferative and histiocytic …

H syndrome is an autosomal recessive genodermatosis caused by SLC29A3 gene mutation.
An important feature of the H syndrome is the hyperpigmented patchs and plaques, usually …

H syndrome (OMIM 602782) is a juvenile-onset autosomal recessive genodermatosis
characterised by cutaneous hyperpigmentation, hypertrichosis and induration with variable …

H syndrome is an autosomal recessive genodermatosis caused by SLC29A3 gene mutation.
An important feature of the H syndrome is the hyperpigmented patchs and plaques, usually …