Condition: Premature adrenarche


rs34002892 in GNPTAB gene and Premature adrenarche PMID 20880125 2011 Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.

PMID 25606425 2014 Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report.

PMID 16465621 2006 Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene.

rs1557043622 in SLC35A2 gene and Premature adrenarche PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.