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Expanding genotype-phenotype correlation of Kenny-Caffey syndrome type 1.

作者信息

Lo Bianco Manuela, Sipala Federica, Pappalardo Xena Giada, Fusto Gaia, Rizzo Roberta, Favata Federico, Cimino Carla, Marino Silvia, Ruggieri Martino, Suppiej Agnese, Ronsisvalle Simone, Falsaperla Raffaele

机构信息

Unit of Pediatric Clinic, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

Department of Drug Sciences, University of Catania, Catania, Italy.

出版信息

Clin Exp Pediatr. 2025 Aug;68(8):616-619. doi: 10.3345/cep.2025.00360. Epub 2025 May 12.

Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c30/12326046/28bb6680cb79/cep-2025-00360f1.jpg

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本文引用的文献

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Analysis of GJB2 gene mutations spectrum and the characteristics of individuals with c.109G>A in Western Guangdong.
Mol Genet Genomic Med. 2023 Aug;11(8):e2185. doi: 10.1002/mgg3.2185. Epub 2023 Apr 18.
2
Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.
J Clin Endocrinol Metab. 2023 Aug 18;108(9):e754-e768. doi: 10.1210/clinem/dgad147.
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Eur J Hum Genet. 2016 Jan;24(1):2-5. doi: 10.1038/ejhg.2015.226. Epub 2015 Oct 28.
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The structure of the complex between α-tubulin, TBCE and TBCB reveals a tubulin dimer dissociation mechanism.
J Cell Sci. 2015 May 1;128(9):1824-34. doi: 10.1242/jcs.167387. Epub 2015 Apr 23.
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Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement.
Am J Med Genet. 1999 Jul 2;85(1):48-52. doi: 10.1002/(sici)1096-8628(19990702)85:1<48::aid-ajmg9>3.0.co;2-y.

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