A novel homozygous MMP2 mutation in a family with Winchester syndrome

Clinical Genetics

Volumn 69, Issue 3, 2006, Pages 271-276

  Rouzier, C ^a   Vanatka, R ^a,b   Bannwarth, S ^a   Philip, N ^c   Coussement, A ^a   Paquis Flucklinger, V ^a,d   Lambert, Jean Claude ^a  

^a CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^b UNIVERSITY HOSPITAL BRATISLAVA   (Slovakia)

^c TIMONE HOSPITAL   (France)

^d School of Medicine   (France)

Author keywords

Metalloproteinase 2; Multicentric hands and feet osteolysis; NAO syndrome; Torg syndrome; Winchester syndrome

Indexed keywords

GELATINASE A;

ADULT; ARTHROPATHY; AUTOSOMAL RECESSIVE DISORDER; BONE RADIOGRAPHY; CASE REPORT; CLINICAL FEATURE; CONSANGUINITY; DISEASE COURSE; ENZYME ACTIVE SITE; FAMILY STUDY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OSTEOLYSIS; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SIBLING; SKIN NODULE; WINCHESTER SYNDROME;

ADULT; BASE SEQUENCE; CATALYTIC DOMAIN; DNA; FEMALE; HOMOZYGOTE; HUMANS; MALE; MATRIX METALLOPROTEINASE 2; MUTATION; OSTEOLYSIS, ESSENTIAL; PHENOTYPE; SEQUENCE DELETION; SYNDROME;

EID: 33644791786     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00584.x     Document Type: Review

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