Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1

• 1 September 1999
• journal article
• case report
• Published by Springer Nature in European Journal of Human Genetics
• Vol. 7  (6) , 633-637
• https://doi.org/10.1038/sj.ejhg.5200355

Abstract

Keywords

• MICROSATELLITE
• CHS
• CHROMOSOME
• ISODISOMY
• CODON
• CHEDIAK HIGASHI
• HIGASHI SYNDROME
• KARYOTYPE