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Progressive Massive Splenomegaly in an Adult Patient with Kabuki Syndrome Complicated with Immune Thrombocytopenic Purpura

Kabuki syndrome is characterized by multiple systemic anomalies and intellectual disability. It is complicated with immunodeficiencies and autoimmune disorders. The syndrome is caused by a mutation in the KMT2D gene. We herein report a case of a Kabuki syndrome with developing immune thrombocytopeni...

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Detalles Bibliográficos
Autores principales: Mushino, Toshiki, Hiroi, Takayuki, Yamashita, Yusuke, Suzaki, Norihiko, Mishima, Hiroyuki, Ueno, Masaki, Kinoshita, Akira, Minami, Koichi, Imai, Kohsuke, Yoshiura, Ko-ichiro, Sonoki, Takashi, Tamura, Shinobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8263171/
https://www.ncbi.nlm.nih.gov/pubmed/33518579
http://dx.doi.org/10.2169/internalmedicine.6694-20

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