A phenotypic variant of Knobloch syndrome

Ophthalmic Genetics

Volumn 29, Issue 2, 2008, Pages 85-86

  Williams, Theresa Anne ^a   Kirkby, Graham R ^a   Williams, Denise ^b   Ainsworth, John R ^c  

^a CITY HOSPITAL   (United Kingdom)

^b BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^c BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Collagen; Knobloch syndrome; Myopia; Renal abnormalities; Vitreoretinal degeneration

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBROSPINAL FLUID FISTULA; CLINICAL FEATURE; COL18A1 GENE; GENE; HUMAN; KIDNEY DUPLICATION; KNOBLOCH SYNDROME; MALE; MYOPIA; NYSTAGMUS; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; VISUAL ACUITY;

ABNORMALITIES, MULTIPLE; COLLAGEN TYPE XVIII; ENCEPHALOCELE; EYE DISEASES, HEREDITARY; GENES, RECESSIVE; HAIR; HUMANS; INFANT; KIDNEY; MALE; MUTATION; MYOPIA; PHENOTYPE; RETINAL DEGENERATION; RETINAL DETACHMENT; SYNDROME;

EID: 45849109221     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810701850041     Document Type: Article

References (7)

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