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Items: 3

1.
A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1
Francisco Cammarata-Scalisi, Uta Matysiak, Colin E. Willoughby, Gunda Ruzaike, Antonio Cárdenas Tadich, Maykol Araya Castillo, Carmen Zara-Chirinos, Ana Bracho, Andrea Avendaño, Houweyda Jilani, Michele Callea
J Pediatr Genet. 2023 Dec; 12(4): 339–341. Published online 2021 Jul 26. doi: 10.1055/s-0041-1732474
Correction in:
J Pediatr Genet. 2023 Dec; 12(4): e1.
PMCID:
PMC10756726
AbstractArticlePDF–222K
2.
COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type
S. Matsubayashi, M. Ikema, Y. Ninomiya, K. Yamaguchi, S. Ikegawa, G. Nishimura
Mol Syndromol. 2013 Mar; 4(3): 148–151. Published online 2013 Jan 30. doi: 10.1159/000346644
PMCID:
PMC3638937
AbstractArticlePDF–114K
3.
Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management
Ali Al Kaissi, Maher B Ghachem, Nesseb M Nabil, Vladimir Kenis, Eugene Melchenko, Ekatrina Morenko, Franz Grill, Rudolf Ganger, Susanne G Kircher
Orthop Surg. 2018 Aug; 10(3): 241–246. Published online 2018 Jul 19. doi: 10.1111/os.12382
PMCID:
PMC6594483
AbstractArticlePDF–525K

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