Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata
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DOI: 10.1097/mcd.0000000000000419
Abstract: We describe a female infant with X-linked chondrodysplasia punctata (CDPX1) as a result of maternal isodisomy of the X chromosome. Targeted Sanger sequencing and targeted next-generation sequencing of ARSL were used to test for the… read more here.
Keywords: uniparental disomy; mechanism linked; disomy mechanism; linked chondrodysplasia ... See more keywords