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CRLF1 and CLCF1 in Development, Health and Disease.
Crisponi L, Buers I, Rutsch F. Crisponi L, et al. Int J Mol Sci. 2022 Jan 17;23(2):992. doi: 10.3390/ijms23020992. Int J Mol Sci. 2022. PMID: 35055176 Free PMC article. Review.
A new case series of Crisponi syndrome in a Turkish family and review of the literature.
Bayraktar-Tanyeri B, Hepokur M, Bayraktar S, Persico I, Crisponi L. Bayraktar-Tanyeri B, et al. Clin Dysmorphol. 2017 Apr;26(2):66-72. doi: 10.1097/MCD.0000000000000163. Clin Dysmorphol. 2017. PMID: 27977424 Review.
Crisponi syndrome/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder with a complex phenotype, reported in the neonatal period for CS and in the evolutive one for CISS. ...
Crisponi syndrome/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder with a complex phenotype, re
Novel Mutations in CRLF1: Case Reports with Crisponi Syndrome.
A R, Chandran S, Ghatak AR, Thomas N, Danda S. A R, et al. Indian J Pediatr. 2022 Nov;89(11):1148-1150. doi: 10.1007/s12098-022-04263-4. Epub 2022 Aug 19. Indian J Pediatr. 2022. PMID: 35984556 Review.
Crisponi syndrome (CS) is a rare autosomal recessive syndrome, characterized by episodic facial muscle contraction with trismus, abundant salivation along with intermittent hyperthermia, feeding difficulties, characteristic facial dysmorphism, and camptodactyly. Her
Crisponi syndrome (CS) is a rare autosomal recessive syndrome, characterized by episodic facial muscle contraction with trismu
Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome.
Nannenberg EA, Bijlmer R, Van Geel BM, Hennekam RC. Nannenberg EA, et al. Am J Med Genet A. 2005 Feb 15;133A(1):90-2. doi: 10.1002/ajmg.a.30536. Am J Med Genet A. 2005. PMID: 15637710 Review.
The Crisponi syndrome is an infrequently described syndrome characterized by extensive muscular contractions in the face after even minimal stimuli, hypertonia, camptodactyly, and typical facial features (chubby cheeks, broad nose with anteverted nares, and long phi …
The Crisponi syndrome is an infrequently described syndrome characterized by extensive muscular contractions in the face after …