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Anauxetic Dysplasia: A Rare Clinical Entity
(Turkish J Pediatrics, 2018)
Cartilage hair hypoplasia and anauxetic dysplasia spectrum constitute a group of autosomal recessive disorders characterized by variable extent of metaphyseal to spondylometaepiphyseal involvement and various additional ...
Dermal Fibroblast Transcriptome Indicates Contribution Of Wnt Signaling Pathways In The Pathogenesis Of Apert Syndrome
(Turkish J Pediatrics, 2017)
Cranial sutures are unossified connective tissue structures between the cranial bones, which allow expansion of these bones during development. Premature ossification of these structures is called craniosynostosis. Apert ...
Epigenotype And Phenotype Correlations In Patients With Beckwith-Wiedemann Syndrome
(Turkish J Pediatrics, 2018)
Beckwith-Wiedemann Syndrome (BWS) is one of the most common overgrowth syndromes. Cancer predisposition is an important feature of this clinically heterogeneous syndrome. Patients may have fetal and early childhood overgrowth, ...
A Novel De Novo Mutation Involving the Mll2 Gene in a Kabuki Syndrome Patient Presenting with Seizures
(Turkish J Pediatrics, 2016)
Kabuki syndrome is a rare multiple congenital anomaly disorder. Although mental retardation is one of the main features, various neurological symptoms such as hypotonia and seizures can occur. Here we report on a 18-year-old ...