Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenanie-Lenz-like non-syndromic oligosyndactyly

Journal of Medical Genetics

Volumn 47, Issue 8, 2010, Pages 569-574

  Dimitrov, Boyan Ivanov ^a   Voet, Thierry ^a   De Smet, Luc ^a   Vermeesch, Joris Robert ^a   Devriendt, Koen ^a   Fryns, Jean Pierre ^a   Debeer, Philippe ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CENANI LENZ LIKE NONSYNDROMIC OLIGOSYNDACTYLY; CHROMOSOME ABERRATION; FMN1 GENE; GENE; GENE OVEREXPRESSION; GENE REARRANGEMENT; GREM1 GENE; HEARING LOSS; HOMOZYGOSITY; HUMAN; KIDNEY DISEASE; LIMB DEFECT; MALE; OLIGOSYNDACTYLY; PRIORITY JOURNAL; RADIOULNAR SYNOSTOSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDACTYLY; SYNOSTOSIS;

ABNORMALITIES, MULTIPLE; ADULT; ANIMALS; CHICKENS; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 15; FEMALE; FETAL PROTEINS; GENE REARRANGEMENT; GENETIC LOCI; GENOME, HUMAN; HEARING LOSS; HUMANS; INFANT; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; KIDNEY DISEASES; MALE; MICE; MICROFILAMENT PROTEINS; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; RADIUS; SYNDACTYLY; SYNDROME; ULNA;

MUS;

EID: 77956096974     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.073833     Document Type: Article

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