Crisponi/CISS1 syndrome: A case series.

about

Mutations in CRLF1 cause familial achalasia.

P2860

Q51262816-E7EBC7B3-5150-429C-9F1D-43794B5C54E0

P2860

Crisponi/CISS1 syndrome: A case series.

Item

http://www.wikidata.org/entity/Q53298862

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh-hant

name

Crisponi/CISS1 syndrome: A case series.

@en

Crisponi/CISS1 syndrome: A case series.

@nl

type

Item

label

Crisponi/CISS1 syndrome: A case series.

@en

Crisponi/CISS1 syndrome: A case series.

@nl

prefLabel

Crisponi/CISS1 syndrome: A case series.

@en

Crisponi/CISS1 syndrome: A case series.

@nl

P1476

Crisponi/CISS1 syndrome: A case series.

@en

P2093

Ahmad M Kurdi

http://www.w3.org/2001/XMLSchema#string

Amal M Alhashem

http://www.w3.org/2001/XMLSchema#string

Amer N Ammari

http://www.w3.org/2001/XMLSchema#string

Eissa Faqeih

http://www.w3.org/2001/XMLSchema#string

Ester Garne

http://www.w3.org/2001/XMLSchema#string

Maha Nojoom

http://www.w3.org/2001/XMLSchema#string

Maha S Alrakaf

http://www.w3.org/2001/XMLSchema#string

Muhammad Ali Majeed-Saidan

http://www.w3.org/2001/XMLSchema#string

Sateesh Maddirevula

http://www.w3.org/2001/XMLSchema#string

P2860

Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient

Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1

Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes

Genetics and genomic medicine in Saudi Arabia

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.

Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders

Cold-induced profuse sweating on back and chest. A new genetic entity?

Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.

Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome?

P304

1236-1241

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1002/AJMG.A.37569

http://www.w3.org/2001/XMLSchema#string

P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

170A

http://www.w3.org/2001/XMLSchema#string

P50

Fowzan S Alkuraya

P577

2016-01-24T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

26804344

http://www.w3.org/2001/XMLSchema#string

Crisponi/CISS1 syndrome: A case series.

about

P2860

P2860

Crisponi/CISS1 syndrome: A case series.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698