Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome

Human Mutation

Volumn 35, Issue 4, 2014, Pages 424-433

  Piras, Roberta ^a,b   Chiappe, Francesca ^a   Torraca, Ilaria La ^c   Buers, Insa ^d   Usala, Gianluca ^a   Angius, Andrea ^a,e   Akin, Mustafa Ali ^f   Basel Vanagaite, Lina ^g,h   Benedicenti, Francesco ⁱ   Chiodin, Elisabetta ⁱ   El Assy, Osama ^j   Feingold Zadok, Michal ^g   Guibert, Javier ^k   Kamien, Benjamin ^l   Kasapkara, Çiǧdem Seher ^m   Kiliç, Esra ⁿ   Boduroǧlu, Koray ⁿ   Kurtoglu, Selim ^f   Manzur, Adnan Y ^o   Onal, Eray Esra ^m   Paderi, Enrica ^p   Roche, Carmen Herrero ^q   Tümer, Leyla ^m   Unal, Sezin ^m   Utine, Gülen Eda ⁿ   Zanda, Giovanni ^p   Zankl, Andreas ^r,s   Zampino, Giuseppe ^c   Crisponi, Giangiorgio ^t   Crisponi, Laura ^a   Rutsch, Frank ^d   more..

^a CNR   (Italy)

^b UNIVERSITY OF CAGLIARI   (Italy)

^c FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^d UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^e CENTER FOR ADVANCED STUDIES   (Italy)

^f ERCIYES UNIVERSITY   (Turkey)

^g SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^h TEL AVIV UNIVERSITY   (Israel)

ⁱ CENTRAL HOSPITAL OF BOLZANO   (Italy)

^j AL HADA ARMED FORCES HOSPITAL   (Saudi Arabia)

^k Instituto de Investigación Sanitaria de Navarra   (Spain)

^l ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^m GAZI UNIVERSITY FACULTY OF MEDICINE   (Turkey)

ⁿ HACETTEPE UNIVERSITY   (Turkey)

^o GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^p San Martino Hospital   (Italy)

^q HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^r UNIVERSITY OF SYDNEY   (Australia)

^s CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^t Clinica Sant'Anna   (Italy)

more..

Author keywords

CISS1; CNTFR pathway; Crisponi syndrome; CRLF1

Indexed keywords

ARTICLE; CLINICAL FEATURE; COLD INDUCED SWEATING SYNDROME TYPE 1; CRISPONI SYNDROME; CRLF1 GENE; GENE; GENE LOCUS; GENE MUTATION; GENETIC DISORDER; GENOME; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; ITALY; PREVALENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN; TURKEY (REPUBLIC); CHILD; FACIES; FEMALE; FEVER; GENETIC DATABASE; GENETIC VARIABILITY; GENETICS; HAND DEFORMITIES, CONGENITAL; MALE; MUSCLE CONTRACTION; MUTATION; PATHOLOGY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SUDDEN DEATH; TRISMUS;

CILIARY NEUROTROPHIC FACTOR RECEPTOR ALPHA; CNTFR PROTEIN, HUMAN; CYTOKINE RECEPTOR; CYTOKINE-LIKE FACTOR-1;

CHILD; CHILD, PRESCHOOL; CILIARY NEUROTROPHIC FACTOR RECEPTOR ALPHA SUBUNIT; DATABASES, GENETIC; DEATH, SUDDEN; FACIES; FEMALE; FEVER; GENETIC VARIATION; HAND DEFORMITIES, CONGENITAL; HUMANS; MALE; MUSCLE CONTRACTION; MUTATION; POLYMERASE CHAIN REACTION; RECEPTORS, CYTOKINE; TRISMUS;

EID: 84896141146     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22522     Document Type: Article

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