New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly

Introduction: FATCO (Fibular Aplasia, Tibial Campomelia and Oligosyndactyly) is a very infrequent skeletal dysplasia classified within the limb hypoplasia-reduction defects group whose genetic cause has not yet been identified. The advent of next-generation sequencing is enabling the diagnosis of di...

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Detalles Bibliográficos
Autores principales: Sifre-Ruiz, Anna, Sagasta, Amaia, Santos, Erika, Perez de Nanclares, Guiomar, Heath, Karen E.
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/PMC10133553/
https://www.ncbi.nlm.nih.gov/pubmed/37124614
http://dx.doi.org/10.3389/fgene.2023.1165780

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10133553/
https://www.ncbi.nlm.nih.gov/pubmed/37124614
http://dx.doi.org/10.3389/fgene.2023.1165780

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