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...

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Detalhes bibliográficos
Main Authors: Jamsheer, Aleksander, Sowińska, Anna, Trzeciak, Tomasz, Jamsheer-Bratkowska, Małgorzata, Geppert, Anita, Latos-Bieleńska, Anna
Formato: Artigo
Idioma:Inglês
Publicado em: Springer-Verlag 2012
Assuntos:
Human Genetics · Original Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3477483/
https://ncbi.nlm.nih.gov/pubmed/22903559
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-012-0109-x
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