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A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism.
Hum Genet. 2017 Jul;136(7):835-845. doi: 10.1007/s00439-017-1804-9. Epub 2017 Apr 25.
Hum Genet. 2017.
PMID: 28444561
Free PMC article.
Actionable clinical decisions based on comprehensive genomic evaluation in asymptomatic adults.
Pillar N, Isakov O, Weissglas-Volkov D, Botchan S, Friedman E, Arber N, Shomron N.
Pillar N, et al. Among authors: botchan s.
Mol Genet Genomic Med. 2015 Sep;3(5):433-9. doi: 10.1002/mgg3.154. Epub 2015 May 6.
Mol Genet Genomic Med. 2015.
PMID: 26436109
Free PMC article.
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X-linked elliptocytosis with impaired growth is related to mutated AMMECR1.
Basel-Vanagaite L, Pillar N, Isakov O, Smirin-Yosef P, Lagovsky I, Orenstein N, Salmon-Divon M, Tamary H, Zaft T, Bazak L, Meyerovitch J, Pelli T, Botchan S, Farberov L, Weissglas-Volkov D, Shomron N.
Basel-Vanagaite L, et al. Among authors: botchan s.
Gene. 2017 Mar 30;606:47-52. doi: 10.1016/j.gene.2017.01.001. Epub 2017 Jan 9.
Gene. 2017.
PMID: 28089922
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Corrigendum to "X-linked elliptocytosis with impaired growth is related to mutated AMMECR1" [Gene 606C (2017) 47-52].
Basel-Vanagaite L, Pillar N, Isakov O, Smirin-Yosef P, Lagovsky I, Orenstein N, Salmon-Divon M, Tamary H, Zaft T, Bazak L, Meyerovitch J, Pelli T, Botchan S, Farberov L, Weissglas-Volkov D, Shomron N.
Basel-Vanagaite L, et al. Among authors: botchan s.
Gene. 2018 Feb 20;644:155. doi: 10.1016/j.gene.2017.11.051. Epub 2017 Nov 27.
Gene. 2018.
PMID: 29174631
No abstract available.
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