Associated Papers
New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742-2A>G.
Reinhold V et al.
Molecular Genetics & Genomic Medicine, 2023
The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.
Bayés M et al.
Human Molecular Genetics, 1998
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