The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature

Novel PIK3R1 gene mutation associated with SHORT syndrome: a case report of a 15-year-old female

A Osman, A Morsi, S El-Refee… - Journal of Pediatric …, 2024 - degruyter.com
Objectives To present the clinical journey and management of a 15-year-old female with
SHORT syndrome, highlighting the diagnostic challenges and the novel genetic mutation …
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[HTML][HTML] A Novel Variant of the PIK3R1 Gene Mutation Associated With SHORT Syndrome and Agammaglobulinemia

JS Iqbaluddin, F Cipe, S Al-Hammadi, S Yavuz… - Cureus, 2024 - ncbi.nlm.nih.gov
Primary immunodeficiencies are disorders of the immune system often caused by mutations
of genes required for lymphocyte development. Phosphoinositide-3-kinase regulatory …
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A Novel Variant of the PIK3R1 Gene Mutation Associated With SHORT Syndrome and Agammaglobulinemia

SI Juwairiya, C Funda, S Al-Hammadi, Y Sinan… - Cureus, 2024 - search.proquest.com
Primary immunodeficiencies are disorders of the immune system often caused by mutations
of genes required for lymphocyte development. Phosphoinositide-3-kinase regulatory …
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Immunodeficiency, Leukemia, and Lymphoma

A Srinivasan, AA Sinha, JK Frazer - 2022 - Springer
Leukemias and lymphomas are the dominant malignancies in childhood, comprising over
one third of all pediatric cancer cases. They are also prevalent in adulthood, each being …
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SHORT syndrome: A good case can break an old acronym.

I Ruiz-García, FJ Sánchez-Torralvo… - … , Diabetes y Nutrición, 2023 - europepmc.org
SHORT syndrome: A good case can break an old acronym. - Abstract - Europe PMC Sign in |
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