Molecular genetics of the ichthyoses
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference115 articles.
1. X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male
2. Deletions of the steroid sulphatase gene in ?classical? X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome
3. Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification
4. Trichothiodystrophy, a transcription syndrome
5. Prenatal diagnosis of a lethal form of Netherton syndrome bySPINK5 mutation analysis
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1. Compound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report;Pharmacogenomics and Personalized Medicine;2022-06
2. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation;BMC Medical Genomics;2022-01-05
3. Maternal Immunization: Nature Meets Nurture;Frontiers in Microbiology;2020-07-24
4. Ichthyosen: Ein dermatopathologisches Spektrum von heterogenen Verhornungsstörungen bis psoriasiformer Dermatitis;Der Pathologe;2020-05-26
5. Recognition and management of congenital ichthyosis in a low-income setting;BMJ Case Reports;2019-08
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