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Journal of Perinatology : Official Journal of the California Perinatal Association|March 2, 2021
Genital anomalies in newbornsFederico Mecarini, Vassilios Fanos, Giangiorgio CrisponiJournal of Perinatology : Official Journal of the California Perinatal Association|January 12, 2020
Anomalies of the oral cavity in newbornsFederico Mecarini, Vassilios Fanos, Giangiorgio CrisponiThe Journal of Obstetrics and Gynaecology Research|March 3, 2012
Isolated 'sign of the horns': a simple, pathognomonic, prenatal sonographic marker of Crisponi syndromeAngelica Dessì, Vassilios Fanos, Giangiorgio Crisponi, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|February 14, 2016
New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophyCarla Cossu, Federica Incani, Maria Luisa Serra, et al.Muscle & Nerve|November 14, 2015
Warmth and nociceptive evoked potentials in cold-induced sweating syndrome type 1Elisa Testani, Giacomo Della Marca, Ilaria La Torraca, et al.Clinical Dysmorphology|December 12, 2022
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrumChloe Jade Ashton, Rahat Perveen, Glenda Beaman, et al.European Journal of Human Genetics : EJHG|February 18, 2011
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disordersJana Herholz, Alessandra Meloni, Mara Marongiu, et al.Genes|September 28, 2024
Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating SyndromeRoberta Onesimo, Elisabetta Sforza, Federica Palermo, et al.Clinical Genetics|September 10, 2019
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment conceptsInsa Buers, Ivana Persico, Lara Schöning, et al.Genes|August 28, 2025
Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1Federico Calà, Elisabetta Sforza, Lucia D'Alatri, et al.Pageof 2