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Last Updated: 10/31/2025
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Found 146 publications
13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies.
Journal: International journal of molecular sciences
Published: August 19, 2025
SF3B1 mutation accelerates the development of CLL via activation of the mTOR pathway.
Journal: JCI insight
Published: July 22, 2025
Deep Cervical Lymphovenous Anastomoses Improved Brain Function and Internal Neck Edema in Central Lymphatic Anomaly Associated with 13q Deletion Syndrome.
Journal: Plastic and reconstructive surgery. Global open
Published: March 14, 2025
SF3B1 mutation accelerates the development of CLL via activation of the mTOR pathway.
Journal: JCI insight
Published: July 02, 2024
Retinoblastoma and polydactyly in a child with 46, XY, 15pstk+ karyotype-A case report and literature review.
Journal: Molecular genetics & genomic medicine
Published: October 05, 2023
From Genes to Ambiguity: A Case Study Exploring the Enigmatic Connection Between Chromosome 13q Deletion Syndrome and Ambiguous Genitalia.
Journal: Cureus
Published: September 13, 2023
Hypergranular multiple myeloma with crystalline inclusions in young with 13q deletion.
Journal: Indian journal of pathology & microbiology
Published: May 02, 2023
Digital Gangrene and Antiphospholipid Syndrome in a Retinoblastoma Patient with Chromosome 13q Deletion: A Case Report.
Journal: Case reports in oncology
Published: September 12, 2022
CTCF loss induces giant lamellar bodies in Purkinje cell dendrites.
Journal: Acta neuropathologica communications
Published: September 07, 2022
Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature.
Journal: Journal of medical case reports
Published: May 16, 2022
Last Updated: 10/31/2025