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EnglishCrisponi 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].
| Data di pubblicazione: | 2020 | |
| Titolo: | Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion | |
| Autori: | ||
| Citazione: | 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]. | |
| Rivista: | ||
| Digital Object Identifier (DOI): | http://dx.doi.org/10.1097/MCD.0000000000000325 | |
| 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. | |
| Appare nelle tipologie: | 1.01 Articolo in rivista |
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| File | Descrizione | Tipologia | Licenza | |
|---|---|---|---|---|
| Crisponi .pdf | Pre-print | Open Access Visualizza/Apri |
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