Results 111 to 120 of about 45,940 (218)

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 733-737, March 2026.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss   +8 more
wiley   +1 more source

Central Abnormalities in Idiopathic Tinnitus With Mild Hearing Loss: Selective Attention and Preprocessing Dysfunction

open access: yesBrain and Behavior, Volume 16, Issue 3, March 2026.
Idiopathic tinnitus and mild hearing loss may lead to selective attention and preprocessing dysfunction. ABSTRACT Objectives To verify the abnormal brain electrical activity of idiopathic tinnitus through auditory event‐related potentials and elucidate the impact of mild hearing loss.
Xingqian Shen   +10 more
wiley   +1 more source

Sensorineural Hearing Loss. [PDF]

open access: yesAnnals of Internal Medicine, 1971
G E W Wolstenholme, J Knight
openaire   +2 more sources

Jacob's Syndrome and Hearing Loss: A Case Study

open access: yesClinical Case Reports, Volume 14, Issue 3, March 2026.
Bilateral mild‐to‐moderate hearing loss identified in a child with Jacob’s syndrome (47,XYY). This case highlights the importance of early audiological assessment in children with chromosomal abnormalities to facilitate timely intervention and optimize developmental outcomes.
Houra Bagheri   +3 more
wiley   +1 more source

When Rarity Hits Twice: Hemophagocytic Lymphohistiocytosis in Kabuki Syndrome—A Case Report From Palestine

open access: yesClinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Clinicians should maintain a high index of suspicion for Hemophagocytic Lymphohistiocytosis in Kabuki syndrome patients who present with persistent fever, cytopenias, and organomegaly. Prompt diagnosis and multidisciplinary management are essential to improve outcomes in this rare but potentially fatal complication.
Lilyan Jarrar   +7 more
wiley   +1 more source

Genetics of Waardenburg Syndrome in Africa: A Systematic Review. [PDF]

open access: yesInt J Mol Sci
Aboagye ET   +4 more
europepmc   +1 more source

Ciliary Defects in Inherited Retinal Diseases

open access: yesAdvanced Genetics, Volume 7, Issue 1, March 2026.
The photoreceptor cilium is a specialized sensory organelle essential for vision. This review systematically summarizes the structural and functional defects of the cilium that lead to inherited retinal diseases (IRDs). It highlights key pathogenic genes, elucidates molecular mechanisms of degeneration, and evaluates emerging therapeutic strategies ...
Guizhi Guo, Lin Li, Jun Zhou, Jie Ran
wiley   +1 more source

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