article_metadata: Mireia Boluda-Navarro Mariam Ibáñez Alessandro Liquori Clara Franco-Jarava Mónica Martínez-Gallo Héctor Rodríguez-Vega Jaijo Teresa Carmen Carreras Esperanza Such Ángel Zúñiga Roger Colobran José Vicente Cervera
article_metadata: 10.3389/fimmu.2021.625591
article_metadata: Front Immunol
article_metadata: 2021 Mar 31;12:625591.
article_metadata: chs chédiak-higashi syndrome lyst snp-array hemophagocytic lymphohistiocytosis loss of heterozygosity primary immunodeficiency uniparental disomy
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/33868243/
article_metadata: Chediak-Higashi Syndrome / genetics Mutation Uniparental Disomy Vesicular Transport Proteins / genetics
article_metadata: Chediak-Higashi Syndrome / genetics Mutation Uniparental Disomy Vesicular Transport Proteins / genetics Case Reports Research Support, Non-U.S. Gov't Chediak-Higashi Syndrome / diagnosis Chediak-Higashi Syndrome / therapy Child, Preschool Female Genetic Predisposition to Disease Heredity Homozygote Humans Loss of Heterozygosity Molecular Diagnostic Techniques Mothers Pedigree Phenotype Severity of Illness Index LYST protein, human Vesicular Transport Proteins
article_metadata: PMC8044466
article_metadata: 33868243
article_metadata: Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome
article_metadata: 2021