Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation

BACKGROUND: Ichthyosis is a heterogeneous group of Mendelian cornification disorders that includes syndromic and non-syndromic forms. Autosomal Recessive Congenital Ichthyosis (ARCI) and Ichthyosis Linearis Circumflexa (ILC) belong to non-syndromic forms. Syndromic ichthyosis is rather a large group...

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Detalles Bibliográficos
Autores principales: Ennouri, Mariem, Zimmer, Andreas D., Bahloul, Emna, Chaabouni, Rim, Marrakchi, Slaheddine, Turki, Hamida, Fakhfakh, Faiza, Bougacha-Elleuch, Noura, Fischer, Judith
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8729015/
https://www.ncbi.nlm.nih.gov/pubmed/34983512
http://dx.doi.org/10.1186/s12920-021-01154-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8729015/
https://www.ncbi.nlm.nih.gov/pubmed/34983512
http://dx.doi.org/10.1186/s12920-021-01154-z

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