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Clinical Case Reports, ISSN 2050-0904, 11/2018, Volume 6, Issue 11, pp. 2252 - 2255
Presented are two patients with autosomal dominant omodysplasia and mutations in the FZD2 gene. The mutations identified have been recently reported,... 
omodysplasia | FRIZZLED2 | rhizomelia | Genotype & phenotype | Genetic disorders | Mutation
Journal Article
European Journal of Human Genetics : EJHG, ISSN 1018-4813, 05/2014, Volume 22, Issue 5, p. 594
Mucolipidosis (ML) II and ML IIIα/[beta] are allelic autosomal recessive metabolic disorders due to mutations in GNPTAB. The gene encodes the enzyme... 
Enzymes | Phenotypes | Disease | Pathogenesis | Patients | Information sources | Copyright | Mucolipidosis | Missense mutation | Life span | Alleles | Fibroblasts | Genetics | Cathepsin D | Biochemical characteristics | Phosphotransferase | Mutation | Intracellular | Metabolic disorders | Genotypes
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2014, Volume 94, Issue 5, pp. 734 - 744
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 356 - 362
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 5, pp. 594 - 601
Journal Article
European journal of human genetics, ISSN 1018-4813, 2010, Volume 18, Issue 8, pp. 872 - 880
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 06/2016, Volume 118, Issue 2, pp. 92 - 99
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2010, Volume 87, Issue 1, pp. 95 - 100
Journal Article