Rothmund–Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations

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, as we...

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Detalles Bibliográficos
Autores principales: Zirn, B., Bernbeck, U., Alt, K., Oeffner, F., Gerhardinger, A., Has, C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9060067/
https://www.ncbi.nlm.nih.gov/pubmed/35664819
http://dx.doi.org/10.1002/ski2.12

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9060067/
https://www.ncbi.nlm.nih.gov/pubmed/35664819
http://dx.doi.org/10.1002/ski2.12

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