Different Phenotypic Presentations of X-Linked Lymphoproliferative Disease in Siblings with Identical Mutations
نویسندگان
چکیده
منابع مشابه
Phenotypic Discordance in Siblings with Identical Compound Heterozygous PARK2 Mutations
PARK2 mutations are the most common cause of early-onset Parkinson's disease. No genotype-phenotype correlation exists, and phenotypic variability is quite common. We report two siblings with confirmed identical compound heterozygous mutations in the PARK2 gene manifesting strikingly different phenotypes. The older brother demonstrated marked parkinsonism by his mid-20's, whereas the younger br...
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ژورنال
عنوان ژورنال: Journal of Clinical Immunology
سال: 2019
ISSN: 0271-9142,1573-2592
DOI: 10.1007/s10875-019-00649-w