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...

Full description

Saved in:
Bibliographic Details
Main Authors: 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
Format: Artigo
Language:Inglês
Published: 1999
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377970/
https://ncbi.nlm.nih.gov/pubmed/10441570
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items