Expanded mutational spectrum of the GLI3 gene substantiates genotype–phenotype correlations

Greig cephalopolysyndactyly syndrome (GCPS) and isolated preaxial polydactyly type IV (PPD-IV) are rare autosomal dominant disorders, both caused by mutations in the GLI3 gene. GCPS is mainly characterised by craniofacial abnormalities (macrocephaly/prominent forehead, hypertelorism) and limb malfor...

Descripción completa

Detalles Bibliográficos
Autores principales: Jamsheer, Aleksander, Sowińska, Anna, Trzeciak, Tomasz, Jamsheer-Bratkowska, Małgorzata, Geppert, Anita, Latos-Bieleńska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer-Verlag 2012
Materias:
Human Genetics · Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477483/
https://www.ncbi.nlm.nih.gov/pubmed/22903559
http://dx.doi.org/10.1007/s13353-012-0109-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477483/
https://www.ncbi.nlm.nih.gov/pubmed/22903559
http://dx.doi.org/10.1007/s13353-012-0109-x

Ejemplares similares