Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene (CASE REPORT)

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MOSALLANEJAD ASIEH; ALAEI MOHAMMADREZA; GHAFFARI SAEED REZA; RAFATI MARYAM; SANEIFARD HEDIEH

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Journal Paper

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Journal: Iranian Journal of Child Neurology Year:2020 | Volume:14 | Issue:2 Page(s): 101-106

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Title

Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene (CASE REPORT)

Author(s)

Keywords

Mucopolysaccharidosis

Sly Syndrome

GUSB Gene

Hydrops Fetalis

Abstract

Mucopolysaccharidosis type VII (MPS VII) or Sly Syndrome is a rare autosomal recessive disorder caused by deficiency of β-glucuronidase enzyme, which is involved in degradation of glycosaminoglycans. The lack of β-glucuronidase in this lysosomal storage disorder is characterized by various manifestations such as nonimmune Hydrops Fetalis, spinal deformity, organomegaly, dysostosis multiplex, intellectual disability, and eye involvement. It is caused by a mutation in GUSB Gene located on chromosome 7 q11. The current study reported an Iranian female with MPS VII and a novel mutation (c. 542G>T, p. Arg181Leu) in GUSB Gene.

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APA: Copy

MOSALLANEJAD, ASIEH, ALAEI, MOHAMMADREZA, GHAFFARI, SAEED REZA, RAFATI, MARYAM, & SANEIFARD, HEDIEH. (2020). Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene (CASE REPORT). IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), 14(2), 101-106. SID. https://sid.ir/paper/740171/en

Vancouver: Copy

MOSALLANEJAD ASIEH, ALAEI MOHAMMADREZA, GHAFFARI SAEED REZA, RAFATI MARYAM, SANEIFARD HEDIEH. Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene (CASE REPORT). IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)[Internet]. 2020;14(2):101-106. Available from: https://sid.ir/paper/740171/en

IEEE: Copy

ASIEH MOSALLANEJAD, MOHAMMADREZA ALAEI, SAEED REZA GHAFFARI, MARYAM RAFATI, and HEDIEH SANEIFARD, “Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene (CASE REPORT),” IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), vol. 14, no. 2, pp. 101–106, 2020, [Online]. Available: https://sid.ir/paper/740171/en

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