## Abstract Coldโinduced sweating syndrome (CISS) is a rare autosomal recessive disorder caused by mutations in __CRLF1__ (cytokine receptorโlike factor 1), characterized by profuse sweating in cold environmental temperature and craniofacial and skeletal features. Mutations in __CRLF1__ also cause
โฆ LIBER โฆ
Crisponi syndrome: A new case with additional features and new mutation in CRLF1
โ Scribed by Ilyas Okur; Leyla Tumer; Laura Crisponi; Fatma Tuba Eminoglu; Francesca Chiappe; Peyami Cinaz; Idil Yenicesu; Alev Hasanoglu
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 120 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Cold-induced sweating syndrome with neon
โ
Masanori Yamazaki; Tomoki Kosho; Shigeo Kawachi; Maiko Mikoshiba; Jun Takahashi;
๐
Article
๐
2010
๐
John Wiley and Sons
๐
English
โ 213 KB
๐ 1 views
Johnson-McMillin syndrome: Report of a n
โ
Lisa J. Cushman; Wilfredo Torres-Martinez; David D. Weaver
๐
Article
๐
2005
๐
John Wiley and Sons
๐
English
โ 107 KB
๐ 1 views
## Abstract ## BACKGROUND JohnsonโMcMillin syndrome (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, anosmia/hyposmia, and hypogonadotropic hypogonadism. It is inherited in an autosomal dominant manner; however, the causative gene has
Additional features in a new case of a g
โ
Pricila Bernardi; Carla Graziadio; Rafael F.M. Rosa; Lisiane Dall'Agnol; Paulo R
๐
Article
๐
2009
๐
John Wiley and Sons
๐
English
โ 223 KB
๐ 1 views
Ichthyosis follicularis, alopecia, and p
โ
Hala Mรฉgarbanรฉ; Cynthia Zablit; Naji Waked; Gรฉrard Lefranc; Roland Tomb; Andrรฉ M
๐
Article
๐
2003
๐
John Wiley and Sons
๐
English
โ 181 KB
๐ 1 views
FGFR2 gene mutation (Tyr375Cys) in a new
โ
Krepelov๏ฟฝ, Anna; Baxov๏ฟฝ, Alice; Calda, Pavel; Plavka, Richard; Kapras, Jan
๐
Article
๐
1998
๐
John Wiley and Sons
๐
English
โ 14 KB
๐ 2 views
Char syndrome: An additional family with
โ
Zannolli, R. ;Mostardini, R. ;Matera, M. ;Pucci, L. ;Gelb, B.D. ;Morgese, G.
๐
Article
๐
2000
๐
John Wiley and Sons
๐
English
โ 353 KB
๐ 1 views