Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference18 articles.
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1. Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene;Journal of Genetic Engineering and Biotechnology;2021-08-03
2. Mucolipidoses Overview: Past, Present, and Future;International Journal of Molecular Sciences;2020-09-17
3. Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III;Journal of Human Genetics;2020-07-10
4. Small posterior fossa in Chiari I malformation affected families is significantly linked to 1q43-44 and 12q23-24.11 using whole exome sequencing;European Journal of Human Genetics;2019-06-21
5. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update onGNPTABandGNPTGmutations;Human Mutation;2019-04-13
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