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Ocular manifestations and treatment progress of Crouzon syndrome.
Int Ophthalmol
September 2024
Department of Ophthalmology, Chengdu First People's Hospital/Chengdu Integrated TCM and Western Medicine Hospital, No.18 Wanxiang North Road, Chengdu, 610041, Sichuan Province, China.
Article Synopsis
- Crouzon syndrome is a genetic disorder linked to mutations in the FGFR2 gene, commonly inherited in an autosomal dominant manner, primarily affecting the skull and face, making it a significant type of craniosynostosis.
- This article emphasizes the ocular complications associated with Crouzon syndrome and aims to aid in diagnosis and treatment planning by reviewing literature on related ophthalmological issues.
- The findings reveal a high prevalence of eye abnormalities, including shallow orbits and exophthalmos, with treatments mostly focused on correcting anatomical issues related to these ocular deformities.
Novel fetal phenotype of TAF8 deficiency.
Eur J Hum Genet
January 2025
Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel.
TAF8 is part of the transcription factor TFIID complex. TFIID is crucial for recruiting the transcription factor complex containing RNA polymerase II. TAF8 deficiency was recently reported as causing a severe neurodevelopmental disorder in eight patients.
View Article and Find Full Text PDFLimb reduction in an Esco2 cohesinopathy mouse model is mediated by p53-dependent apoptosis and vascular disruption.
Nat Commun
August 2024
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, USA.
Article Synopsis
- Roberts syndrome (RBS) is a genetic disorder that leads to severe growth delays and limb reduction due to mutations in the ESCO2 gene.* -
- Research using a mouse model revealed that limb reduction is caused by morphological and vascular defects, including hemorrhage in mutant limbs, linked to specific cell populations with altered p53 signaling.* -
- Treatment with a p53 inhibitor improved symptoms, and similarities were found between genes associated with RBS and other limb reduction disorders, hinting at shared causes related to blood vessel development.*
A Rare Case of Congenital Generalized Lipodystrophy.
Cureus
July 2024
Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pune, IND.
Article Synopsis
- Congenital generalized lipodystrophy type 2 (CGL2) is a rare genetic disorder causing almost complete loss of body fat, leading to serious health issues.
- A case study describes a one-year-old boy with symptoms like abdominal swelling, distinctive facial features, and enlarged liver and spleen, confirmed through lab tests and imaging.
- Genetic analysis identified a harmful mutation in the BSCL2 gene, highlighting the need for early diagnosis, genetic counseling, and ongoing medical care for affected individuals.
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