Cutaneous squamous cell carcinoma in an autosomal‐recessive Adams–Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene

Aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD) are the characteristic findings of Adams–Oliver syndrome (AOS). The variable clinical spectrum further includes cardiac, neurologic, renal, and ophthalmological findings. Associated genes in AOS are in the Notch a...

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Detalles Bibliográficos
Autores principales: Lukas, Meyer‐Landolt, Harald, Gaspar, Sanz, Javier, Trippel, Mafalda, Sabina, Gallati, Jochen, Rössler
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9826191/
https://www.ncbi.nlm.nih.gov/pubmed/36059114
http://dx.doi.org/10.1002/ajmg.a.62961

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