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Year | Number of Results |
---|---|
1986 | 1 |
2018 | 1 |
2019 | 3 |
2024 | 0 |
PubMed (cited) for id: 618889
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The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.
Genet Med. 2019 Dec;21(12):2734-2743. doi: 10.1038/s41436-019-0595-x. Epub 2019 Jul 2.
Genet Med. 2019.
PMID: 31263216
Free PMC article.
PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes.
Zhao T, Goedhart CM, Sam PN, Sabouny R, Lingrell S, Cornish AJ, Lamont RE, Bernier FP, Sinasac D, Parboosingh JS; Care4Rare Canada Consortium; Vance JE, Claypool SM, Innes AM, Shutt TE.
Zhao T, et al.
Life Sci Alliance. 2019 Mar 11;2(2):e201900353. doi: 10.26508/lsa.201900353. Print 2019 Apr.
Life Sci Alliance. 2019.
PMID: 30858161
Free PMC article.
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The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.
Girisha KM, von Elsner L, Neethukrishna K, Muranjan M, Shukla A, Bhavani GS, Nishimura G, Kutsche K, Mortier G.
Girisha KM, et al.
Hum Mutat. 2019 Mar;40(3):299-309. doi: 10.1002/humu.23693. Epub 2018 Dec 21.
Hum Mutat. 2019.
PMID: 30488656
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Tapetoretinal degeneration associated with multisystem abnormalities. A case report.
Liberfarb RM, Katsumi O, Fleischnick E, Shapiro F, Hirose T.
Liberfarb RM, et al.
Ophthalmic Paediatr Genet. 1986 Dec;7(3):151-8. doi: 10.3109/13816818609004132.
Ophthalmic Paediatr Genet. 1986.
PMID: 3561949
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