Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2.

Autor: Akalın A; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Pediatric Genetics, Diyarbakir Children's Hospital, Diyarbakır, Turkey., Ayaz E; Department of Pediatric Radiology, Diyarbakir Children's Hospital, Diyarbakır, Turkey., Soğukpınar M; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Avcı-Durmuşalioğlu E; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey., Ürel-Demir G; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Yıldız AE; Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Atik T; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey., Elcioglu NH; Department of Pediatric Genetics, Marmara University Faculty of Medicine, Istanbul, Turkey.; Department of Pediatric Genetics, Eastern Mediterranean University Medical School, Famagusta, Turkey., Eda Utine G; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Şimşek-Kiper PÖ; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63785. Date of Electronic Publication: 2024 Jun 11.

Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review.

Autor: Tang, Wei¹ (AUTHOR), Wu, Ke‐Mi¹ (AUTHOR), Zhou, Qiong^1,2 (AUTHOR), Tang, Yan‐Fei^1,3 (AUTHOR), Fu, Jun‐Fen⁴ (AUTHOR), Dong, Guan‐Ping⁴ (AUTHOR), Zou, Chao‐Chun⁴ (AUTHOR) zcc14@zju.edu.cn

Publikováno v: Molecular Genetics & Genomic Medicine. Apr2024, Vol. 12 Issue 4, p1-19. 19p.

Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias

Autor: Hästbacka, J., Superti-Furga, A., Wilcox, W. R., Rimoin, D. L., Cohn, D. H., Lander, E. S.

Atelosteogenesis type II (AO II) is a neonatally lethal chondrodysplasia whose clinical and histological characteristics resemble those of another chondrodysplasia, the much less severe diastrophic dysplasia (DTD). The similarity suggests a shared pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::58362ed8b105bdae6441e7bbfd9dd8f6
https://europepmc.org/articles/PMC1914552/

An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita

Autor: Tiller, G E, Weis, M A, Polumbo, P A, Gruber, H E, Rimoin, D L, Cohn, D H, Eyre, D R

Defects in type II collagen have been demonstrated in a phenotypic continuum of chondrodysplasias that includes achondrogenesis II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita (SEDC), Kniest dysplasia, and Stickler syndrome. We have de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7e273a4e9f28792e2fa1ecfc56302a86
https://europepmc.org/articles/PMC1801144/

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