Results 291 to 300 of about 79,565 (318)

A Novel EP300 Variant in an African American Girl With Global Developmental Delay and Leukemia

open access: yesMolecular Genetics &Genomic Medicine, Volume 13, Issue 6, June 2025.
Pathogenic germline missense and in‐frame indel variants in exons 30 or 31 of the EP300 gene are associated with Menke–Hennekam syndrome‐2 (MKHK2). In somatic cells, EP300 variants have been reported in lymphoma, leukemia, and various solid tumors. We present an African American girl with global developmental delay, failure to thrive, microcephaly ...
Subit Barua   +3 more
wiley   +1 more source

Adrenal Insufficiency in Patients with Beta Thalassemia: A Meta-Analysis. [PDF]

open access: yesMedicina (Kaunas)
Savvidis C   +5 more
europepmc   +1 more source

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