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Article

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

BMC medical genomics - 5 Jan 2022

Ennouri Mariem, Zimmer Andreas D, Bahloul Emna, Chaabouni Rim, Marrakchi Slaheddine, Turki Hamida, Fakhfakh Faiza, Bougacha-Elleuch Noura, Fischer Judith

Abstract excerpt

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 of heterogeneous diseases. Overlapping phenotypes and genotypes between these disorders is a major characteristic....

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Identifiers

PMID: 34983512
DOI: 10.1186/s12920-021-01154-z
PMCID: PMC8729015

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