Norrie disease: Extraocular clinical manifestations in 56 patients

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 8, 2012, Pages 1909-1917

  Smith, Sharon E ^a   Mullen, Thomas E ^b   Graham, Dionne ^c   Sims, Katherine B ^b   Rehm, Heidi L ^b  

^a HARVARD MEDICAL SCHOOL   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Autism; Congenital blindness; Developmental delay; Erectile dysfunction; Hearing loss; Intellectual disability; Norrie disease; Peripheral vascular disease; Pervasive developmental disorder

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; BEHAVIOR DISORDER; BIPOLAR DISORDER; CHILD; CLINICAL ARTICLE; COGNITIVE DEFECT; DEPRESSION; DISEASE REGISTRY; ERECTILE DYSFUNCTION; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEARING LOSS; HUMAN; INFANT; LEUKOKORIA; MALE; MENTAL INSTABILITY; MISSENSE MUTATION; NDP GENE; NONSENSE MUTATION; NORRIE DISEASE; NYSTAGMUS; ONSET AGE; PERIPHERAL VASCULAR DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; ULCER; VARICOSIS; VENOUS STASIS;

BLINDNESS; GENOTYPE; HUMANS; MALE; NERVOUS SYSTEM DISEASES; NEUROPSYCHOLOGICAL TESTS; PHENOTYPE; QUESTIONNAIRES; SPASMS, INFANTILE;

EID: 84864130982     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35469     Document Type: Article

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