Results 11 to 20 of about 2,491 (128)
Haemophilia, Volume 32, Issue 1, Page 185-194, January/February 2026.ABSTRACT Background In patients with unexplained bleeding and normal haemostatic parameters, heritable disorders of connective tissue (HDCT) may be an underlying cause due to vascular fragility, as observed in Ehlers–Danlos syndrome (EDS) or Marfan syndrome (MS). This study aims to investigate the molecular profile of patients with joint hypermobility (
Perla Bandini +11 more
wiley +1 more source
Case Reports in Genetics, Volume 2026, Issue 1, 2026.Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in the fibrillin‐1 (FBN1) gene on Chromosome 15q21.1. A 3‐year‐old female presented to the clinic with MFS and a family history of an affected maternal uncle and maternal great‐aunt.
Breanna Beers +3 more
wiley +1 more source
Camptodactyly and Early‐Onset Scoliosis in Snijders Blok–Campeau Syndrome
Case Reports in Genetics, Volume 2026, Issue 1, 2026.Snijders Blok–Campeau syndrome is caused by a heterozygous CHD3 pathogenic variant, and characterized by features including macrocephaly, speech delay, hypotonia, and joint laxity. In the hereby‐presented case, a Japanese girl with Snijders Blok–Campeau syndrome displayed bilateral middle finger camptodactyly and early‐onset scoliosis, beyond the ...
Masaki Miura +12 more
wiley +1 more source
Human Mutation, Volume 2026, Issue 1, 2026.Loeys–Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by aggressive aortic pathology, primarily caused by pathogenic variants in genes such as TGFBR1. We report a 44‐year‐old female with a known LDS diagnosis who presented with a symptomatic, rapidly expanding abdominal aortic aneurysm (44.8 mm) with concurrent ...
Yuchong Zhang +7 more
wiley +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
Annals of Neurology, Volume 98, Issue 5, Page 932-950, November 2025.Objective Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating variants in the autophagy gene EPG5 have been associated with Vici syndrome, a severe early‐onset neurodevelopmental
Hormos Salimi Dafsari +140 more
wiley +1 more source
Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón +33 more
wiley +1 more source
Intraoperative Neurophysiological Monitoring in Patients With Marfan Syndrome Scoliosis
Orthopaedic Surgery, Volume 17, Issue 11, Page 3109-3115, November 2025.This study assessed intraoperative neurophysiological monitoring (IONM) efficacy in patients with Marfan syndrome‐associated scoliosis during posterior spinal fusion, showing 89.8% SEP and 92.4% MEP success rates. MFS patients with larger Cobb angles of the main curve and larger DAR values at pre‐operation suffer a higher risk of failed IONM monitoring.
Kaiyi Cao +6 more
wiley +1 more source
MyomiRs Expression in Limb Girdle Muscular Dystrophy
IUBMB Life, Volume 77, Issue 10, October 2025.ABSTRACT This manuscript is a comprehensive review focused on the role of microRNAs (miRs)—short RNA molecules—in Limb Girdle Muscular Dystrophy (LGMD). LGMD encompasses various and heterogeneous rare genetic neuromuscular diseases, characterized by the progressive wasting and deterioration of muscle fibers, predominantly affecting the pelvic and ...
G. Breveglieri +7 more
wiley +1 more source
Clinical Genetics, Volume 108, Issue 4, Page 379-392, October 2025.The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Fiona Leduc +5 more
wiley +1 more source