SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably

BACKGROUND: Split-hand/ foot malformation with long bone deficiency 3 (SHFLD3) is an extremely rare condition associated with duplications located on 17p13.3, which invariably encompasses the BHLHA9 gene. The disease inherits with variable expressivity and significant incomplete penetrance as high a...

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Detalles Bibliográficos
Autores principales: Bukowska-Olech, Ewelina, Sowińska-Seidler, Anna, Wierzba, Jolanta, Jamsheer, Aleksander
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9419377/
https://www.ncbi.nlm.nih.gov/pubmed/36028842
http://dx.doi.org/10.1186/s13023-022-02480-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9419377/
https://www.ncbi.nlm.nih.gov/pubmed/36028842
http://dx.doi.org/10.1186/s13023-022-02480-w

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