Recessive Schwartz-Jampel syndrome (SJS): Confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval

Human Genetics

Volumn 98, Issue 3, 1996, Pages 380-385

  Fontaine, Bertrand ^a   Nicole, Sophie ^a   Topaloglu, Haluk ^b   Hamida, Christiane Ben ^c   Beighton, Peter ^d   Spaans, Frank ^e   Cantu, Jose M A ^f   Bakouri, Salim ^g   Romero, Norma ^h   Ricker, Ken ⁱ   Barros Nunez, Patricio ^f   Ponsot, Gérard ^h   Hamida, Mongi Ben ^c   Weissenbach, Jean ^j   Hentati, Faycal ^c   Lehmann Horn, Frank ⁱ  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b HACETTEPE UNIVERSITY   (Turkey)

^c Institut National de Neurologie Tunisia   (Tunisia)

^d UNIVERSITY OF CAPE TOWN   (South Africa)

^e MAASTRICHT UNIVERSITY   (Netherlands)

^f Ctro Invest Biomedica Occidente   (Mexico)

^g Centre Hospitalier et Universitaire de Beni Messous Algiers   (Algeria)

^h Hopitaux de Paris   (France)

ⁱ UNIVERSITY OF ULM   (Germany)

^j GÉNÉTHON   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 1P; CLINICAL FEATURE; CONTROLLED STUDY; GENE MAPPING; GENETIC LINKAGE; GENETIC RECOMBINATION; HUMAN; HUMAN CELL; OSTEOARTHROPATHY; PRIORITY JOURNAL; SCHWARTZ JAMPEL SYNDROME; SEGREGATION ANALYSIS;

ALLELES; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; DNA PRIMERS; FEMALE; GENES, RECESSIVE; GENETIC MARKERS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; OSTEOCHONDRODYSPLASIAS; PEDIGREE;

EID: 9344222191     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050225     Document Type: Article

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