A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley–Kendall dysplasia are allelic disorders

BACKGROUND: Greenberg dysplasia is a rare, autosomal recessive, prenatal lethal bone dysplasia caused by biallelic pathogenic variants in the lamin B receptor (LBR) gene. Pathogenic variants in LBR are also associated with Pelger–Huët anomaly, an autosomal dominant benign abnormality of the nuclear...

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Detalles Bibliográficos
Autores principales: Gregersen, Pernille A., McKay, Victoria, Walsh, Maie, Brown, Erica, McGillivray, George, Savarirayan, Ravi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284023/
https://www.ncbi.nlm.nih.gov/pubmed/32304187
http://dx.doi.org/10.1002/mgg3.1173

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