A Novel Intronic OCRL1 Variant Causing Lowe Syndrome with an Atypical Phenotype Mimicking Mucopolysaccharidosis.

Manisha KY, Fasaludeen A, Menon RN, Amarkrishna K, Prasad MR, Sundaram S

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DOI
10.4103/aian.aian_839_26
Published
2026 Nov 4
Container
Annals of Indian Academy of Neurology
Publisher
Not recorded
Open access
unknown

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BibTeX

@article{allodium:10.4103/aian.aian_839_26,
  title = {A Novel Intronic OCRL1 Variant Causing Lowe Syndrome with an Atypical Phenotype Mimicking Mucopolysaccharidosis.},
  author = {Manisha KY and Fasaludeen A and Menon RN and Amarkrishna K and Prasad MR and Sundaram S},
  year = {2026},
  journal = {Annals of Indian Academy of Neurology},
  doi = {10.4103/aian.aian_839_26},
  url = {https://doi.org/10.4103/aian.aian_839_26}
}

RIS

TY  - JOUR
TI  - A Novel Intronic OCRL1 Variant Causing Lowe Syndrome with an Atypical Phenotype Mimicking Mucopolysaccharidosis.
AU  - Manisha KY
AU  - Fasaludeen A
AU  - Menon RN
AU  - Amarkrishna K
AU  - Prasad MR
AU  - Sundaram S
PY  - 2026
JO  - Annals of Indian Academy of Neurology
DO  - 10.4103/aian.aian_839_26
UR  - https://doi.org/10.4103/aian.aian_839_26
ER  - 

APA

KY, M., A, F., RN, M., K, A., MR, P., & S, S. (2026). A Novel Intronic OCRL1 Variant Causing Lowe Syndrome with an Atypical Phenotype Mimicking Mucopolysaccharidosis.. Annals of Indian Academy of Neurology. https://doi.org/10.4103/aian.aian_839_26

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