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Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

Prenatal diagnosis - 1 Dec 2016

Miguet Marguerite, Thevenon Julien, Laugel Vincent, Lefebvre Mathilde, Bourchany Aurélie, Rivière Jean-Baptiste, Duffourd Yannis, Schaefer Elise, Antal Maria Cristina, Abida Rosalie, Weingertner Anne-Sophie, Kremer Valérie, Vabres Pierre, Morice-Picard Fanny, Gonzales Marie, Lipsker Dan, Fraitag Sylvie, Mandel Jean-Louis, Chelly Jamel, Dollfus Hélène, Faivre Laurence, Thauvin-Robinet Christel, Calmels Nadège, El Chehadeh Salima

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 27862069
DOI: 10.1002/pd.4965

Genes

ERCC2

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Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.PMID 27862069Read ↗

Xeroderma pigmentosum group D: Report of a novel combination of ERCC2 variations and its phenotype.Semantic proximity Read ↗

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A noncancerous variant of xeroderma pigmentosum type D associated with novel heterozygous missense ERCC2 gene mutation.Semantic proximity Read ↗

ERCC2 mutations in two siblings with a severe trichothiodystrophy phenotype.Semantic proximity Read ↗

Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.Semantic proximity Read ↗

Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.Semantic proximity Read ↗

Novel mutations in FATP4 gene in two families with ichthyosis prematurity syndrome.Semantic proximity Read ↗

A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis.Semantic proximity Read ↗

XRCC2 mutation causes premature ovarian insufficiency as well as non‐obstructive azoospermia in humansSemantic proximity Read ↗

Prenatal Diagnosis of Trichothiodystrophy Associated with a Novel ERCC2 Variant: Expanding the Genotype–Phenotype Spectrum— a case reportSemantic proximity Read ↗

Ichthyosis and Kallmann syndrome: not always a contiguous gene syndrome.Semantic proximity Read ↗

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