A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction.

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Title: A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction.
Authors: Alhendi ASN; Faculty of Medicine, University of Southampton, UK., Gazdagh G; Faculty of Medicine, University of Southampton, UK.; University Hospital Southampton, UK., Lim D; Birmingham Women's and Children's Foundation Trust, UK., McMullan D; Birmingham Women's and Children's Foundation Trust, UK., Wright M; Newcastle Hospitals NHS Foundation Trust, UK., Temple IK; Faculty of Medicine, University of Southampton, UK.; University Hospital Southampton, UK., Davies JH; Faculty of Medicine, University of Southampton, UK.; University Hospital Southampton, UK., Mackay DJG; Faculty of Medicine, University of Southampton, UK.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 383-388. Date of Electronic Publication: 2023 Oct 18.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1552-4833
DOI:10.1002/ajmg.a.63448