Rothmund-Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations
Abstract Background Rare syndromic skin disorders may represent a diagnostic challenge. Aims We report a unique case associating cutaneous manifestations and developmental delay. Materials & Methods The affected 14 months old boy had poikiloderma, facial dysmorphism with deep‐set eyes, atrichia,...
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| Format: | Livre |
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Wiley,
2021-03-01T00:00:00Z.
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