Identification of a Biallelic Missense Variant in Gasdermin D (c.823G > C, p.Asp275His) in a Patient of Atypical Gorham‐Stout Disease in a Consanguineous Family

Gorham–Stout disease (GSD), also called vanishing bone disease, is a rare osteolytic disease, frequently associated with lymphangiomatous tissue proliferation. The causative genetic background has not been noted except for a case with a somatic mutation in KRAS. However, in the present study, we enc...

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Detalles Bibliográficos
Autores principales: Uehara, Daniela Tiaki, Muramatsu, Tomoki, Ishii, Senichi, Suzuki, Hidetsugu, Fukushima, Kazuyuki, Arasaki, Yasuhiro, Hayata, Tadayoshi, Inazawa, Johji, Ezura, Yoichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10494506/
https://www.ncbi.nlm.nih.gov/pubmed/37701150
http://dx.doi.org/10.1002/jbm4.10784

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10494506/
https://www.ncbi.nlm.nih.gov/pubmed/37701150
http://dx.doi.org/10.1002/jbm4.10784

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