Cohen syndrome in the Ohio Amish

American Journal of Medical Genetics

Volumn 128 A, Issue 1, 2004, Pages 23-28

  Falk, Marni J ^a,d   Feiler, Heidi S ^b   Neilson, Derek E ^a   Maxwell, Kathleen ^a   Lee, James V ^b   Segall, Samantha K ^b   Robin, Nathaniel H ^a   Wilhelmsen, Kirk C ^b   Träskelin, Ann Liz ^c   Kolehmainen, Juha ^c   Lehesjoki, Anna Elina ^c   Wiznitzer, Max ^a   Warman, Matthew L ^a  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF HELSINKI   (Finland)

^d Center for Human Genetics   (United States)

Author keywords

COH1; Retinitis pigmentosa

Indexed keywords

ADOLESCENT; ALLELE; AMISH; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 8Q; CLINICAL ARTICLE; COH1 GENE; COHEN SYNDROME; ETHNIC GROUP; FACIES; FEMALE; FOOT MALFORMATION; FOUNDER EFFECT; FRAMESHIFT MUTATION; FRIENDLY DISPOSITION; GENE; GENE SEQUENCE; GENETIC LINKAGE; GRANULOCYTOPENIA; GROWTH RETARDATION; HAND MALFORMATION; HUMAN; INBREEDING; JOINT HYPERMOBILITY; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MISSENSE MUTATION; MUSCLE HYPOTONIA; MYOPIA; PERSONALITY; PHENOTYPE; PIGMENTARY RETINOPATHY; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINOPATHY; SHORT STATURE; UNITED STATES;

EID: 3042841958     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30033     Document Type: Article

References (11)

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