Results 71 to 80 of about 1,223,696 (186)
Brachymetatarsia as an Early Clue to Turner Syndrome
Clinical Case Reports, Volume 14, Issue 4, April 2026.ABSTRACT Congenital anomalies of the extremities, particularly bilateral toe or finger malformations, may provide an early and valuable clue to an underlying genetic disorder and should prompt further diagnostic evaluation. Brachymetatarsia is a rare associated finding that may raise suspicion for Turner syndrome, particularly when diagnosis is delayed
Hounaida Mahfoud, Zaki Elhanchi
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens +3 more
wiley +1 more source
Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report
Frontiers in Genetics, 2018 Background: Apert syndrome is considered as one of the most common craniosynostosis syndromes with a prevalence of 1 in 65,000 individuals, and has a close relationship with point mutations in FGFR2 gene.Case report: Here, we described a Apert syndrome ...
Yahong Li +5 more
doaj +1 more source
Protein recruitment to receptor tyrosine kinase-mediated early signalling complexes. [PDF]
, 2007 Receptor tyrosine kinase (RTK) signalling regulates the activation of numerous cellular processes in response to various external stimuli. Spatio-temporal regulation of protein recruitment to activated tyrosine kinase receptors is important for the ...
Schller, A.C.
core
Divergent Mechanisms of Cranial Suture Ossification in Normal Development and Pathologic Fusion
Journal of Cellular and Molecular Medicine, Volume 30, Issue 7, April 2026.ABSTRACT Cranial sutures are dynamic growth sites that balance bone growth with mesenchymal patency to accommodate cranial expansion during development. While intramembranous ossification has traditionally been considered the default mechanism of suture fusion, accumulating evidence demonstrates that endochondral pathways might also play a significant ...
Anvith Reddy +11 more
wiley +1 more source
Selcuk Dental Journal, 2019 Apert syndrome is a rare congenital malformation characterized by craniocinocytosis, craniofacial anomalies and symmetric syndactyly of the feet and hands.
Nazlıcan Paslı +6 more
doaj
American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 728-732, March 2026.ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates +6 more
wiley +1 more source
Apert syndrome: Diagnostic and management problems in a resource-limited country
Pediatric Reports, 2019 Apert syndrome or acrocephalosyndactyly is a rare genetic disease characterized by craniofacial dysmorphism and syndactyly of the hands and feet. We report an observation in a 4-month-old female infant, whose father was 65 years old.
Makoura Barro +8 more
doaj +1 more source
Anesthetic Management of Patient for Case with Apert Syndrome [PDF]
, 2018 Apert syndrome is an autosomal dominant inherited mandibulofacial dysostosis characterized by craniosynostosis, syndactyly, high forehead, broad nose, maxillary hypoplasia, synostosis of cervical vertebrae, organ malformations, and mental retardation. It
Bahar Aktaş +3 more
core +1 more source
Arquivos de Neuro-Psiquiatria, 2005 Apert syndrome is characterized by craniosynostosis, symmetric syndactyly and other systemic malformations, with mental retardation usually present.
Adriano Yacubian-Fernandes +9 more
doaj +1 more source