Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: Longitudinal observation of a patient homozygous for a CRLF1 mutation

American Journal of Medical Genetics, Part A

Volumn 152, Issue 3, 2010, Pages 764-769

  Yamazaki, Masanori ^a   Kosho, Tomoki ^a   Kawachi, Shigeo ^a   Mikoshiba, Maiko ^a   Takahashi, Jun ^a   Sano, Rena ^a   Oka, Kenji ^a   Yoshida, Kunihiro ^a   Watanabe, Tomoharu ^a   Kato, Hiroyuki ^a   Komatsu, Mitsuhisa ^a   Kawamura, Rie ^a   Wakui, Keiko ^a   Knappskog, Per M ^b,c   Boman, Helge ^b,c   Fukushima, Yoshimitsu ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^c UNIVERSITY OF BERGEN   (Norway)

Author keywords

Cold induced sweating syndrome; Crisponi syndrome; CRLF1

Indexed keywords

CYTOKINE RECEPTOR LIKE FACTOR 1; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; COLD INDUCED SWEATING SYNDROME; CRANIOFACIAL MALFORMATION; CRISPONI SYNDROME; FEMALE; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; PRIORITY JOURNAL; SWEATING;

ABNORMALITIES, MULTIPLE; ADULT; AGE FACTORS; AUTONOMIC NERVOUS SYSTEM DISEASES; BASE SEQUENCE; COLD TEMPERATURE; CONSANGUINITY; CONTRACTURE; CRANIOFACIAL ABNORMALITIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; HYPERHIDROSIS; INFANT, NEWBORN; RECEPTORS, CYTOKINE; SEQUENCE DELETION; SWEATING; SYNDROME;

EID: 77649228687     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33315     Document Type: Article

References (12)

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