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Letter to the Editor regarding "New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant" by Kılıç and Koşukçu, "An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant" by Yüksel Ülker et al. and "Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings" by Duzenli et al.

作者信息

Duzenli Tarik, Sezer Abdullah, Percin Ferda Emriye

机构信息

Faculty of Medicine, Department of Medical Genetics, Gazi University, Ankara, Turkey.

Department of Medical Genetics, Etlik City Hospital, Ankara, Turkey.

出版信息

Am J Med Genet A. 2024 Apr;194(4):e63507. doi: 10.1002/ajmg.a.63507. Epub 2023 Dec 15.

DOI:10.1002/ajmg.a.63507
PMID:38102793
Abstract
摘要

相似文献

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Letter to the Editor regarding "New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant" by Kılıç and Koşukçu, "An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant" by Yüksel Ülker et al. and "Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings" by Duzenli et al.致编辑的信,关于基利奇和科叙克丘撰写的“新发现的携带新型纯合FIBP基因变异的Thauvin-Robinet-Faivre综合征病例”、于克塞尔·于尔凯尔等人撰写的“对35例包括双等位基因SUZ12变异在内的过度生长综合征患儿的病因及随访结果调查”以及杜泽利等人撰写的“扩展Thauvin-Robinet-Faivre综合征的表型和基因型:一名携带新型变异及其他临床发现的新患者”
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