RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome

American Journal of Human Genetics

Volumn 85, Issue 2, 2009, Pages 254-263

  Basel Vanagaite, Lina ^a,b   Sarig, Ofer ^c   Hershkovitz, Dov ^d,e   Fuchs Telem, Dana ^b,c   Rapaport, Debora ^b   Gat, Andrea ^c   Isman, Gila ^c   Shirazi, Idit ^c   Shohat, Mordechai ^a,b   Enk, Claes D ^f   Birk, Efrat ^b   Kohlhase, Jürgen ^g   Matysiak Scholze, Uta ^g   Maya, Idit ^a   Knopf, Carlos ^e   Peffekoven, Anette ^h   Hennies, Hans Christian ^h   Bergman, Reuven ^e   Horowitz, Mia ^b   Ishida Yamamoto, Akemi ⁱ   Sprecher, Eli ^b,c,d   more..

^a RABIN MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^d TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^e MEYER CHILDREN S HOSPITAL   (Israel)

^f HEBREW UNIVERSITY   (Israel)

^g UNIVERSITY OF FREIBURG   (Germany)

^h UNIVERSITY OF COLOGNE   (Germany)

ⁱ ASAHIKAWA MEDICAL COLLEGE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

FIBULIN 5; GENOMIC DNA; GUANINE NUCLEOTIDE EXCHANGE FACTOR; MESSENGER RNA; RAB PROTEIN; RAS AND RAB INTERACTOR 2 PROTEIN; RAS PROTEIN; SMALL INTERFERING RNA; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALOPECIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL ULTRASTRUCTURE; CHROMOSOME 20P; CHROMOSOME 21P; CLINICAL FEATURE; CONTROLLED STUDY; CUTIS LAXA; DNA SEQUENCE; ENDOCYTOSIS; FIBROBLAST CULTURE; FRAMESHIFT MUTATION; GENE; GENE LOCATION; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOBLOTTING; MACROCEPHALY; MACS SYNDROME; MALE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; PROTEIN STRUCTURE; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RIN 2 GENE; SCOLIOSIS; SKIN BIOPSY;

ADOLESCENT; ADULT; ALOPECIA; CARRIER PROTEINS; CASE-CONTROL STUDIES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 20; CONSANGUINITY; CUTIS LAXA; DERMIS; ELASTIC TISSUE; EXTRACELLULAR MATRIX PROTEINS; FRAMESHIFT MUTATION; GENES, RECESSIVE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HOMOZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; PHENOTYPE; SCOLIOSIS; SKIN; SKULL; SYNDROME;

EID: 68249083253     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.07.001     Document Type: Article

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