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Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant.
Yıldız Bölükbaşı E, Karolak JA, Szafranski P, Gambin T, Murik O, Zeevi DA, Altarescu G, Stankiewicz P. Yıldız Bölükbaşı E, et al. Among authors: karolak ja. Am J Med Genet A. 2022 May;188(5):1420-1425. doi: 10.1002/ajmg.a.62656. Epub 2022 Jan 25. Am J Med Genet A. 2022. PMID: 35075769 Free PMC article.
Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant.
Yıldız Bölükbaşı E, Karolak JA, Szafranski P, Gambin T, Matsika A, McManus S, Scott HS, Arts P, Ha T, Barnett CP, Rodgers J, Stankiewicz P. Yıldız Bölükbaşı E, et al. Among authors: karolak ja. Eur J Hum Genet. 2022 Oct;30(10):1182-1186. doi: 10.1038/s41431-022-01159-x. Epub 2022 Jul 28. Eur J Hum Genet. 2022. PMID: 35902696 Free PMC article.
53 results