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

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

Item
http://www.wikidata.org/entity/Q40669620
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromesThe glycinergic system in human startle disease: a genetic screening approach.Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomyDifferential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disordersWarmth and nociceptive evoked potentials in cold-induced sweating syndrome type 1.Cytokine-like factor 1 (CLF1): life after development?Neonatal hypertonia - a diagnostic challenge.Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.Cold induced sweating syndrome with urinary system anomaly association.Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome.Isolated 'sign of the horns': a simple, pathognomonic, prenatal sonographic marker of Crisponi syndrome.Cytokine-Like Factor 1, an Essential Facilitator of Cardiotrophin-Like Cytokine:Ciliary Neurotrophic Factor Receptor α Signaling and sorLA-Mediated Turnover.SorLA and CLC:CLF-1-dependent Downregulation of CNTFRα as Demonstrated by Western Blotting, Inhibition of Lysosomal Enzymes, and ImmunocytochemistryCrisponi/CISS1 syndrome: A case series.Keppen-Lubinsky syndrome: Expanding the phenotype.
P2860

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

Item
http://www.wikidata.org/entity/Q40669620
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Autosomal recessive disorder w ...... sudden death: a new syndrome?
@en
type
label
Autosomal recessive disorder w ...... sudden death: a new syndrome?
@en
prefLabel
Autosomal recessive disorder w ...... sudden death: a new syndrome?
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Autosomal recessive disorder w ...... sudden death: a new syndrome?
@en
P2093
P2860
P304
P31
P356
10.1002/(SICI)1096-8628(19960424)62:4<365::AID-AJMG8>3.0.CO;2-Q
P433
P478
P577
P698