Clinical and molecular characterization of Italian patients affected by Cohen syndrome (Journal of Human Genetics (2007) 52, (1011-1017) DOI: 10.1007/s10038-007-0208-4);Clinical and molecular characterization of Italian patients affected by Cohen syndrome

Journal of Human Genetics

Volumn 52, Issue 12, 2007, Pages 1011-1017

  Katzaki, Eleni ^a   Pescucci, Chiara ^a   Uliana, Vera ^a   Papa, Filomena Tiziana ^a   Ariani, Francesca ^a   Meloni, Ilaria ^a   Priolo, Manuela ^b   Selicorni, Angelo ^c   Milani, Donatella ^c   Fischetto, Rita ^d   Celle, Maria Elena ^e   Grasso, Rita ^f   Dallapiccola, Bruno ^g,h   Brancati, Francesco ^g   Bordignon, Marta ⁱ   Tenconi, Romano ⁱ   Federico, Antonio ^a   Mari, Francesca ^a   Renieri, Alessandra ^a   Longo, Ilaria ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b Hospital of Reggio Calabria   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

^d POLICLINICO   (Italy)

^e UNIVERSITY OF GENOA   (Italy)

^f SCIENTIFIC INSTITUTE   (Italy)

^g Mendel Institute   (Italy)

^h SAPIENZA UNIVERSITY OF ROME   (Italy)

ⁱ UNIVERSITY OF PADOVA   (Italy)

Author keywords

COH1; Cohen syndrome; DHPLC; Founder effect; Heterogeneity

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; COHEN SYNDROME; COHORT ANALYSIS; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DEVELOPMENTAL DISORDER; DNA DETERMINATION; FACE DYSMORPHIA; FACE MALFORMATION; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR TYPING; MYOPIA; NEUTROPENIA; OBESITY; PRESCHOOL CHILD; RETINOPATHY; SCHOOL CHILD; VISUAL DISORDER;

EID: 36448942590     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-007-0239-x     Document Type: Erratum

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