Crisponi syndrome/CISS1, is an autosomal recessive ciliary neurotrophic factor receptor (CNTFR)-related genodermatosis caused in 95% of cases by mutations in CRLF1 on chromosome 19p13. The CNTFR pathway is important for CNS development. Crisponi syndrome/ CISS1 can be suspected in the presence of the following clinical triad: camptodactyly with fisted hands, intermittent hyperthermia and muscular contractions with feeding difficulties.
Schierz I.A.M., Serra G., Antona V., Persico I., Corsello G., & Piro E. (2020). Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion. CLINICAL DYSMORPHOLOGY, 29(3), 141-143 [10.1097/MCD.0000000000000325].
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion
Schierz I. A. M.
;Serra G.;Antona V.;Corsello G.;Piro E.
2020
Abstract
Crisponi syndrome/CISS1, is an autosomal recessive ciliary neurotrophic factor receptor (CNTFR)-related genodermatosis caused in 95% of cases by mutations in CRLF1 on chromosome 19p13. The CNTFR pathway is important for CNS development. Crisponi syndrome/ CISS1 can be suspected in the presence of the following clinical triad: camptodactyly with fisted hands, intermittent hyperthermia and muscular contractions with feeding difficulties.
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