Genetic susceptibility of vitamin D receptor gene polymorphisms on autosomal recessive primary microcephaly patients in Pakistani population: a case-control and in-silico study
Author:
Funder
Lahore College for Women University
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s11033-023-08681-1.pdf
Reference30 articles.
1. Bolat H, Sağer SG, Türkyılmaz A, Çebi AH, Akın Y, Onay H, Özkınay F, Ünsel-Bolat G (2022) Autosomal recessive primary Microcephaly (MCPH) and Novel pathogenic variants in ASPM and WDR62 genes. Mol Syndromol 13(5):363–369. https://doi.org/10.1159/000524391
2. Papoulidis I, Eleftheriades M, Manolakos E, Petersen MB, Liappi SM, Konstantinidou A, Papamichail M, Papadopoulos V, Garas A, Sotiriou S, Papastefanou I (2022) Prenatal identification of a Novel mutation in the MCPH1 Gene Associated with autosomal recessive primary Microcephaly (MCPH) using next generation sequencing (NGS): a Case Report and Review of the literature. Children 9(12):1879. https://doi.org/10.3390/children9121879
3. Jean F, Stuart A, Tarailo-Graovac M (2020) Dissecting the genetic and etiological causes of primary microcephaly. FRONT NEUROL 11:570830. https://doi.org/10.3389/fneur.2020.570830
4. Khan NM, Hussain B, Zheng C, Khan A, Masoud MS, Gu Q, Qiu L, Malik NA, Qasim M, Tariq M, Chang J (2021) Updates on clinical and genetic heterogeneity of ASPM in 12 autosomal recessive primary microcephaly families in pakistani population. Front Pediatr 9:695133. https://doi.org/10.3389/fped.2021.695133
5. Bin Saif G, Khan IA (2022) Association of genetic variants of the vitamin D receptor gene with vitiligo in a tertiary care center in a saudi population: a case-control study. Ann Saudi Med 42(2):96–106. https://doi.org/10.5144/0256-4947.2022.96
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1. Investigating the effects of a single ASPM variant (c.8508_8509) on brain architecture among siblings in a consanguineous Pakistani family;Molecular Biology Reports;2024-01-15
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