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A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis.
Eur J Med Genet. 2024 Apr;68:104924. doi: 10.1016/j.ejmg.2024.104924. Epub 2024 Feb 12.
Eur J Med Genet. 2024.
PMID: 38355094
Free article.
A lethal and rare cause of arthrogryposis: Glyt1 encephalopathy.
Daşar T, Şimşek-Kiper PÖ, Taşkıran EZ, Çağan M, Özyüncü Ö, Deren Ö, Utine GE, Güçer KŞ, Boduroğlu K.
Daşar T, et al.
Eur J Med Genet. 2022 Dec;65(12):104631. doi: 10.1016/j.ejmg.2022.104631. Epub 2022 Oct 3.
Eur J Med Genet. 2022.
PMID: 36195292
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Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome.
Daşar T, Gönen HN, Kösemehmetoğlu K, Tekşam Ö, Boduroğlu K, Utine GE, Şimşek Kiper PÖ.
Daşar T, et al.
Turk J Pediatr. 2024 May 23;66(2):205-214. doi: 10.24953/turkjpediatr.2024.4511.
Turk J Pediatr. 2024.
PMID: 38814306
Free article.
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