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Last Posted: Mar 04, 2023

• Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly.
  Meloche Jolyane, et al. Molecular genetics & genomic medicine 2019 0 (1) e992
• [A novel compound heterozygous mutation of GNPTAB gene underlying a case with mucolipidosis type II ?/?].
  Yang Ke, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 0 (6) 606-609
• Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
  Pasumarthi Divya, et al. Journal of human genetics 2020 0 (11) 971-984
• Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotyping.
  Pode-Shakked Ben, et al. European journal of medical genetics 2020 0 (7) 103927
• Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.
  Frisch Amos, et al. Human genetics 2004 0 (4) 366-76
• Mucolipidosis type II and type III: a systematic review of 843 published cases.
  Dogterom Emma J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 6
• A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.
  Zhang Huiwen, et al. Journal of human genetics 2015 9
• The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease.
  Gan-Or Ziv, et al. Neurology 2013 4 (17) 1606-10
• Mucolipidosis type 4
  From NCATS Genetic and Rare Diseases Information Center
• Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?
  Fares Fuad, et al. Prenatal diagnosis 2008 3 (3) 236-41
• The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations.
  Bach Gideon, et al. Human mutation 2005 12 (6) 591
• Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.
  Edelmann Lisa, et al. American journal of human genetics 2002 4 (4) 1023-7
• Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.
  Bargal R, et al. Human mutation 2001 5 (5) 397-402