Exclusion of chromosome 15q21.1 in autosomal-recessive Weill - Marchesani syndrome in an inbred Lebanese family

Clinical Genetics

Volumn 58, Issue 6, 2000, Pages 473-478

  Mágarbané, André ^a   Mustapha, M ^a   Bleik, J ^b   Waked, N ^c   Delague, V ^a   Loiselet, J ^a  

^a SAINT JOSEPH UNIVERSITY   (Lebanon)

^b RIZK HOSPITAL   (Lebanon)

^c Saint Joseph University   (France)

Author keywords

Autosomal recessive; Brachydactyly; Ectopia lentis; Fibrillin 1; Glaucoma; Linkage; Microspherophakia; Weill Marchesani syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BRACHYDACTYLY; CASE REPORT; CHILD; CHROMOSOME 15Q; CHROMOSOME ANALYSIS; CHROMOSOME DISORDER; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; FAMILIAL DISEASE; FAMILY STUDY; FEMALE; GENETIC LINKAGE; GLAUCOMA; GLAUCOMA SURGERY; HUMAN; INBREEDING; JOINT LIMITATION; LEBANON; LENS LUXATION; MALE; PARENT; PATHOGENESIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SHORT STATURE; SIBLING; WEILL MARCHESANI SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHROMOSOMES, HUMAN, PAIR 15; CONSANGUINITY; DWARFISM; EYE DISEASES; FEMALE; GENES, RECESSIVE; HEART DEFECTS, CONGENITAL; HUMANS; JOINT DISEASES; LINKAGE (GENETICS); MALE; MICROFILAMENT PROTEINS; MYOPIA; PEDIGREE; SYNDROME;

EID: 0034529690     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2000.580608.x     Document Type: Article

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