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Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome

✍ Scribed by Hakan, Nilay; Eminoglu, Fatma Tuba; Aydin, Mustafa; Zenciroglu, Aysegul; Karadag, Nazmiye Nilgun; Dursun, Arzu; Okumus, Nurullah; Ceylaner, Serdar

Book ID
119858593
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
353 KB
Volume
52
Category
Article
ISSN
0914-3505

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πŸ“œ SIMILAR VOLUMES

Cold-induced sweating syndrome with neon
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: Longitudinal observation of a patient homozygous for a CRLF1 mutation
✍ Masanori Yamazaki; Tomoki Kosho; Shigeo Kawachi; Maiko Mikoshiba; Jun Takahashi; πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 213 KB πŸ‘ 2 views

## Abstract Cold‐induced sweating syndrome (CISS) is a rare autosomal recessive disorder caused by mutations in __CRLF1__ (cytokine receptor‐like factor 1), characterized by profuse sweating in cold environmental temperature and craniofacial and skeletal features. Mutations in __CRLF1__ also cause