Identification of novel TMEM231 gene splice variants and pathological findings in a fetus with Meckel Syndrome

Background: Meckel Syndrome (MKS, OMIM #249000) is a rare and fatal autosomal recessive ciliopathy with high clinical and genetic heterogeneity. MKS shows complex allelism with other related ciliopathies such as Joubert Syndrome (JBTS, OMIM #213300). In MKS, the formation and function of the primary...

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Detalles Bibliográficos
Autores principales: Zhang, Qian, Yang, Shuya, Chen, Xin, Wang, Hongdan, Li, Keyan, Zhang, Chaonan, Liao, Shixiu, Qin, Litao, Hou, Qiaofang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10509762/
https://www.ncbi.nlm.nih.gov/pubmed/37736303
http://dx.doi.org/10.3389/fgene.2023.1252873

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