A Novel Missense Variant of HOXD13 Caused Atypical Synpolydactyly by Impairing the Downstream Gene Expression and Literature Review for Genotype–Phenotype Correlations

Synpolydactyly (SPD) is a hereditary congenital limb malformation with distinct syndactyly designated as SPD1, SPD2, and SPD3. SPD1 is caused by mutations of HOXD13, which is a homeobox transcription factor crucial for limb development. More than 143 SPD patients have been reported to carry HOXD13 m...

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Detalles Bibliográficos
Autores principales: Guo, Ruiji, Fang, Xia, Mao, Hailei, Sun, Bin, Zhou, Jiateng, An, Yu, Wang, Bin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8579070/
https://www.ncbi.nlm.nih.gov/pubmed/34777468
http://dx.doi.org/10.3389/fgene.2021.731278

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8579070/
https://www.ncbi.nlm.nih.gov/pubmed/34777468
http://dx.doi.org/10.3389/fgene.2021.731278

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