Split hand/split foot malformation with hearing loss: First report of families linked to the SHFM1 locus in 7q21

Clinical Genetics

Volumn 59, Issue 1, 2001, Pages 28-36

  Tackels Horne, D ^a   Toburen, A ^a   Sangiorgi, E ^b   Gurrieri, F ^a   De Mollerat, X ^c   Fischetto, R ^a   Causio, F ^d   Clarkson, K ^a   Stevenson, Re ^e   Schwartz, Ce ^a  

^a GREENWOOD GENETIC CENTER   (United States)

^b CATHOLIC UNIVERSITY   (Italy)

^c CLEMSON UNIVERSITY   (United States)

^d Division of Metabolic Diseases and Medical Genetics   (Italy)

^e Iniversita di Bari   (Italy)

Author keywords

Chromosome 7; Hearing loss; Linkage analysis; Split hand split foot

Indexed keywords

ADOLESCENT; ARTICLE; BIRTH DEFECT; CHROMOSOME 7Q; CLEFT LIP; CLEFT PALATE; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; ECTODERM; FEMALE; FETUS; FOOT MALFORMATION; GENE EXPRESSION; GENE LOCUS; HAND MALFORMATION; HETEROZYGOTE; HUMAN; INFANT; MALE; PENETRANCE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SKELETON; SYNDROME; TIBIA;

ABNORMALITIES, MULTIPLE; ADULT; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 7; DEAFNESS; FEMALE; FOOT DEFORMITIES, CONGENITAL; GENETIC MARKERS; GENOTYPE; HAND DEFORMITIES, CONGENITAL; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 0035173853     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.590105.x     Document Type: Article

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