Delineation of Cohen syndrome following a large-scale genotype-phenotype screen

American Journal of Human Genetics

Volumn 75, Issue 1, 2004, Pages 122-127

  Kolehmainen, Juha ^a   Wilkinson, Robert ^c   Lehesjoki, Anna Elina ^a   Chandler, Kate ^c   Kivitie Kallio, Satu ^a   Clayton Smith, Jill ^c   Träskelin, Ann Liz ^a   Waris, Laura ^a   Saarinen, Anne ^a   Khan, Jabbar ^c   Gross Tsur, Varda ^d   Traboulsi, Elias I ^e   Warburg, Mette ^f   Fryns, Jean Pierre ^g   Norio, Reijo ^b   Black, Graeme C M ^c   Manson, Forbes D C ^c  

^a UNIVERSITY OF HELSINKI   (Finland)

^b Vaestoliitto   (Finland)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

^d SHAARE ZEDEK MEDICAL CENTER   (Israel)

^e LERNER RESEARCH INSTITUTE   (United States)

^f GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

^g UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; COH1 GENE; COHEN SYNDROME; COHORT ANALYSIS; CONGENITAL DISORDER; DEVELOPMENTAL DISORDER; DIAGNOSTIC ERROR; FACE DYSMORPHIA; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; NEUTROPENIA; NUCLEOTIDE SEQUENCE; PHENOTYPE; PLEIOTROPY; PRIORITY JOURNAL; RETINOPATHY; SYNDROME DELINEATION;

EID: 3042688326     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/422197     Document Type: Article

References (10)

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