The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

Functional characterization of a gene often requires the discovery of the full spectrum of its associated phenotypes. Mutations in the human GLI3 gene have been identified in Greig cepalopolysyndactyly, Pallister-Hall syndrome (PHS), and postaxial polydactyly type-A (PAP-A). We studied the involveme...

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Autores principales: Radhakrishna, U, Bornholdt, D, Scott, H S, Patel, U C, Rossier, C, Engel, H, Bottani, A, Chandal, D, Blouin, J L, Solanki, J V, Grzeschik, K H, Antonarakis, S E
Formato: Artigo
Lenguaje:Inglês
Publicado: 1999
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377970/
https://ncbi.nlm.nih.gov/pubmed/10441570
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