Condition: Hepatomegaly
rs796051877 in
GAA gene and
Hepatomegaly
PMID 26160551 2015 c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.
rs387906309 in
HEXA gene and
Hepatomegaly
PMID 27896118 2014 Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.
PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.