Erratum: Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa (The American Journal of Human Genetics (2016) 99(1) (236–245) (S0002929716301616) (10.1016/j.ajhg.2016.05.026));Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

American Journal of Human Genetics

Volumn 99, Issue 1, 2016, Pages 236-245

  Angius, Andrea ^a   Uva, Paolo ^b   Buers, Insa ^c   Oppo, Manuela ^a,d   Puddu, Alessandro ^a   Onano, Stefano ^a,d   Persico, Ivana ^a   Loi, Angela ^a   Marcia, Loredana ^a,d   Höhne, Wolfgang ^e   Cuccuru, Gianmauro ^b   Fotia, Giorgio ^b   Deiana, Manila ^a   Marongiu, Mara ^a   Atalay, Hatice Tuba ^f   Inan, Sibel ^g   El Assy, Osama ^h   Smit, Leo M E ⁱ   Okur, Ilyas ^f   Boduroglu, Koray ^j   Utine, Gülen Eda ^j   Kılıç, Esra ^k   Zampino, Giuseppe ^l   Crisponi, Giangiorgio ^m   Crisponi, Laura ^a   Rutsch, Frank ^c   more..

^a Milan Unit   (Italy)

^b CENTER FOR ADVANCED STUDIES   (Italy)

^c UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^d UNIVERSITY OF SASSARI   (Italy)

^e UNIVERSITY OF COLOGNE   (Germany)

^f GAZI UNIVERSITY FACULTY OF MEDICINE   (Turkey)

^g AFYON KOCATEPE UNIVERSITY   (Turkey)

^h Dibba Hospital   (United Arab Emirates)

ⁱ HAGA HOSPITAL   (Netherlands)

^j HACETTEPE UNIVERSITY   (Turkey)

^k Hematology Oncology Research Training Children s Hospital   (Turkey)

^l FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^m Clinica Sant'Anna   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEINS AND BINDING PROTEINS; CYTOKINE RECEPTOR; CYTOKINE RECEPTOR LIKE FACTOR 1; KELCH LIKE FAMILY MEMBER 7; UNCLASSIFIED DRUG; AUTOANTIGEN; KLHL7 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COLD INDUCED SWEATING SYNDROME TYPE 1; CRISPONI SYNDROME; FEEDING DIFFICULTY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; HUMAN; HYPERTHERMIA; INFANT; MALE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SCOLIOSIS; SEQUENCE ANALYSIS; UBIQUITINATION; ALLELE; AMINO ACID SEQUENCE; CASE REPORT; CHEMISTRY; COMPLICATION; FACIES; GENETICS; HAND MALFORMATION; HYPERHIDROSIS; MOLECULAR MODEL; MUTATION; PEDIGREE; PRESCHOOL CHILD; SUDDEN DEATH; SYNDROME; TRISMUS;

ALLELES; AMINO ACID SEQUENCE; AUTOANTIGENS; CHILD; CHILD, PRESCHOOL; DEATH, SUDDEN; FACIES; FEMALE; HAND DEFORMITIES, CONGENITAL; HUMANS; HYPERHIDROSIS; INFANT; MALE; MODELS, MOLECULAR; MUTATION; PEDIGREE; PHENOTYPE; RETINITIS PIGMENTOSA; SYNDROME; TRISMUS;

EID: 84989951624     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2018.03.020     Document Type: Erratum

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