Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
Reference16 articles.
1. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis;Sprecher;J Invest Dermatol,2001
2. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome;Chavanas;Nat Genet,2000
3. Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping;Chavanas;Am J Hum Genet,2000
4. Syndrome de Netherton : un modèle d’étude de la régulation de la desquamation;Descargues;Med Sci (Paris),2005
5. Comel-Netherton syndrome defined as primary immunodeficiency;Renner;J Allergy Clin Immunol,2009
Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. A novel SPINK5 donor splice site variant in a child with Netherton syndrome;Molecular Genetics & Genomic Medicine;2021-02-03
2. Netherton Syndrome: A Genotype-Phenotype Review;Molecular Diagnosis & Therapy;2016-11-30
3. Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis;Orphanet Journal of Rare Diseases;2016-01-13
4. Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism;Case Reports in Pediatrics;2015
5. Lethal Netherton Syndrome Due to Homozygous p.Arg371X Mutation in SPINK5;Pediatric Dermatology;2013-01-17
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