Results 61 to 70 of about 17,913 (203)
Conventional and molecular cytogenetic characterization of a Moroccan patient with WAGR syndrome
Egyptian Journal of Medical Human GeneticsBackground WAGR syndrome is a rare genetic disorder characterized by a de novo deletion of 11p13 and is usually clinically associated with Wilms’ tumor, aniridia, genitourinary anomalies, and mental retardation (W-A-G-R).
Faiza Chbel +4 more
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 459-467, February 2026.ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz +12 more
wiley +1 more source
Nephrotic–Nephritic Syndrome Following Unilateral Nephrectomy in Wilms Tumour in a Child
Case Reports in Nephrology, Volume 2026, Issue 1, 2026.Background Wilms tumour (WT) represents the most frequent kidney malignant tumour in the paediatric population and is occasionally linked to specific congenital syndromes. Treatment typically includes multimodal therapy consisting of chemotherapy, surgery and/or radiotherapy (RT), with a success rate of approximately 90%.
Rawshan Zuhair Jaber +1 more
wiley +1 more source
A technique for the management of posttraumatic aniridia and aphakia
, 2020 Aim: To describe our results with HumanOptics IOL-ArtificialIris complex in post traumatic aphakia and aniridia.Methods: Retrospective, single-surgeon chart review of cases in which aniridia and aphakia were corrected using HumanOptics IOL ...
Pereira Bruxelas, C +3 more
core +1 more source
Aniridia congénita y microcefalia en dos gemelas [PDF]
, 2001 Revisar casos y literatura sobre presencia de aniridia y ...
F. Celis-Victoria +7 more
core
Molecular Therapy: Nucleic Acids, 2018 Aniridia is a rare congenital syndrome that is associated with reduced visual acuity and progressive loss of vision. Aniridia patients may also develop systemic health issues associated with defects in the pancreas, digestive, and central nervous systems.
Kevin Yongblah +4 more
doaj +1 more source
Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature
American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim +2 more
wiley +1 more source
The Effect of Glaucoma Treatment on Aniridia-Associated Keratopathy (AAK) - A Report from the Homburg Register for Congenital Aniridia [PDF]
Congenital aniridia is a severe malformation of almost all eye segments. Aniridia-associated keratopathy (AAK) and secondary glaucoma, which occur in more than 50% of affected individuals, are typically progressive and pose a high risk of blindness for ...
Lagali, Neil +7 more
core +1 more source
ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome
Journal of the Peripheral Nervous System, Volume 30, Issue 4, December 2025.ABSTRACT Background Sensory ataxic neuropathies (SAN) are rare large fibre sensory neuropathies characterised by progressive sensory loss and ataxia. They may be inherited or acquired. When inherited they are more commonly seen as part of a broader syndrome involving cerebellar ataxia or mitochondrial dysfunction.
Saif Haddad +5 more
wiley +1 more source
Journal of Internal Medicine, Volume 299, Issue 5, Page 643-648, May 2026.
Josephine Wincent +8 more
wiley +1 more source