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Targeted carrier screening for four recessive disorders: high detection rate within a founder population.
Mathijssen IB, Henneman L, van Eeten-Nijman JM, Lakeman P, Ottenheim CP, Redeker EJ, Ottenhof W, Meijers-Heijboer H, van Maarle MC. Mathijssen IB, et al. Eur J Med Genet. 2015 Mar;58(3):123-8. doi: 10.1016/j.ejmg.2015.01.004. Epub 2015 Jan 30. Eur J Med Genet. 2015. PMID: 25641760
In a genetically isolated community in the Netherlands four severe recessive genetic disorders occur at relatively high frequency (pontocerebellar hypoplasia type 2 (PCH2), fetal akinesia deformation sequence (FADS), rhizomelic chondrodysplasia punctata ty …
In a genetically isolated community in the Netherlands four severe recessive genetic disorders occur at relatively high frequency (pontocere …
Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population.
Ro M, Park J, Nam M, Bang HJ, Yang J, Choi KS, Kim SK, Chung JH, Kwack K. Ro M, et al. J Child Neurol. 2012 Oct;27(10):1270-5. doi: 10.1177/0883073811435507. Epub 2012 Feb 28. J Child Neurol. 2012. PMID: 22378669
PEX7 encodes a cytosolic receptor for peroxisome targeting signal 2 of peroxisomal matrix enzymes that are targeted to and translocated into the peroxisome. PEX7 defects are associated with rhizomelic chondrodysplasia punctata type 1 and Refsum …
PEX7 encodes a cytosolic receptor for peroxisome targeting signal 2 of peroxisomal matrix enzymes that are targeted to and translocated into …
Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B.
Masih S, Moirangthem A, Phadke SR. Masih S, et al. Am J Med Genet A. 2021 May;185(5):1504-1508. doi: 10.1002/ajmg.a.62110. Epub 2021 Feb 14. Am J Med Genet A. 2021. PMID: 33586206
Disease causing variations in PEX7 is known to cause severe rhizomelic chondrodysplasia punctata type 1 and PBD 9B, an allelic disorder resulting in a milder phenotype, often indistinguishable from that of classic Refsum disease. ...
Disease causing variations in PEX7 is known to cause severe rhizomelic chondrodysplasia punctata type 1 a …