CS/CISS1, is an autosomal recessive disorder caused in 95% of cases by mutations in CRLF1 gene on chromosome 19p13. We first report an infant with CS/CISS1 due to compound heterozygosity for 2 CRLF1 mutations: a paternal 44kb deletion involving the neighboring genes TMEM59L and C19orf60, implicated in normal neurodevelopment and a maternal partial deletion encompassing exons 5-9.
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion
Persico Ivana;
2020
Abstract
CS/CISS1, is an autosomal recessive disorder caused in 95% of cases by mutations in CRLF1 gene on chromosome 19p13. We first report an infant with CS/CISS1 due to compound heterozygosity for 2 CRLF1 mutations: a paternal 44kb deletion involving the neighboring genes TMEM59L and C19orf60, implicated in normal neurodevelopment and a maternal partial deletion encompassing exons 5-9.File in questo prodotto:
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