Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature

Alopecia intellectual disability syndromes 4 (APMR4) is a very rare autosomal recessive condition caused by a mutation in the LSS gene present on chromosome 21. This syndrome has a clinical heterogeneity mainly exhibited with variable degrees of intellectual disability (ID) and congenital alopecia,...

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Detalles Bibliográficos
Autores principales: Elaraby, Nesma M., Ahmed, Hoda A., Ashaat, Neveen A., Tawfik, Sameh, Ahmed, Mahmoud K. H., Hassib, Nehal F., Ashaat, Engy A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9726667/
https://www.ncbi.nlm.nih.gov/pubmed/36251212
http://dx.doi.org/10.1007/s12031-022-02074-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9726667/
https://www.ncbi.nlm.nih.gov/pubmed/36251212
http://dx.doi.org/10.1007/s12031-022-02074-y

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