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- W1533124533 abstract "Schöpf-Schulz-Passarge syndrome (SSPS; MIM224750) is a rare autosomal recessive form of ectodermal dysplasia that was recently shown to result from mutations in the WNT10A gene. We now report a 59-year-old woman with SSPS in whom a homozygous nonsense mutation (p.Cys107X) in WNT10A was detected. Mutations in this gene may also underlie odonto-onycho-dermal dysplasia and other ectodermal dysplasia syndromes. To date, 16 different WNT10A mutations have been reported, although considerable clinical and molecular overlap exists. This report demonstrates the molecular basis of a further case of SSPS and highlights the clinical features of this unusual ectodermal dysplasia syndrome." @default.
- W1533124533 created "2016-06-24" @default.
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- W1533124533 date "2011-06-29" @default.
- W1533124533 modified "2023-10-08" @default.
- W1533124533 title "Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A" @default.
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- W1533124533 doi "https://doi.org/10.1111/j.1440-0960.2011.00788.x" @default.
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