Brain malformations associated with Knobloch syndrome - Review of literature, expanding clinical spectrum, and identification of novel mutations

Pediatric Neurology

Volumn 51, Issue 6, 2014, Pages 806-813.e8

  Caglayan, Ahmet Okay ^a   Baranoski, Jacob F ^a   Aktar, Fesih ^b   Han, Wengi ^a   Tuysuz, Beyhan ^c   Guzel, Aslan ^d,e   Guclu, Bulent ^f   Kaymakcalan, Hande ^d   Aktekin, Berrin ^g   Akgumus, Gozde Tugce ^a   Murray, Phillip B ^a   Erson Omay, Emine Z ^a   Caglar, Caner ^a   Bakircioglu, Mehmet ^a   Sakalar, Yildirim Bayezit ^h   Guzel, Ebru ^e   Demir, Nihat ⁱ   Tuncer, Oguz ⁱ   Senturk, Senem ^j   Ekici, Baris ^k   Minja, Frank J ^a   Šestan, Nenad ^a   Yasuno, Katsuhito ^a   Bilguvar, Kaya ^a   Caksen, Huseyin ^l   Gunel, Murat ^a   more..

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Diyarbakir Devlet Hastanesi   (Turkey)

^c ISTANBUL UNIVERSITY   (Turkey)

^d BAHCESEHIR UNIVERSITY   (Turkey)

^e MEDICAL PARK HOSPITAL   (Turkey)

^f Sevket Yilmaz Education and Research Hospital   (Turkey)

^g AKDENIZ UNIVERSITY   (Turkey)

^h DICLE UNIVERSITY   (Turkey)

ⁱ YUZUNCU YIL UNIVERSITY   (Turkey)

^j ISTANBUL MEDENIYET UNIVERSITY   (Turkey)

^k ISTANBUL UNIVERSITY   (Turkey)

^l NECMETTIN ERBAKAN UNIVERSITY   (Turkey)

more..

Author keywords

COL18A1; Collagen XVIII; Cortical development; Knobloch syndrome; Whole exome sequencing

Indexed keywords

COLLAGEN TYPE 18;

ADOLESCENT; ADULT; ALOPECIA; APHAKIA; ARTICLE; BONE DEFECT; BRAIN CORTEX; BRAIN DEVELOPMENT; BRAIN MALFORMATION; CASE STUDY; CLINICAL ARTICLE; CLINICAL FEATURE; COL18A1 GENE; CONSANGUINEOUS MARRIAGE; DEVELOPMENTAL DISORDER; ENCEPHALOCELE; EYE MALFORMATION; FEMALE; FETUS; GENE; GENE FUNCTION; GENE MUTATION; GENETIC SCREENING; GENOTYPE; GLAUCOMA; HIGH MYOPIA; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; KNOBLOCH SYNDROME; LENS SUBLUXATION; MALE; MENTAL HEALTH; MICROCEPHALY; NYSTAGMUS; PROTEIN EXPRESSION; RETINA DEGENERATION; SEIZURE; SEQUENCE ANALYSIS; SPATIOTEMPORAL ANALYSIS; VITREORETINAL DEGENERATION; CASE REPORT; CONSANGUINITY; EMBRYOLOGY; EXOME; GENETICS; GROWTH, DEVELOPMENT AND AGING; METABOLISM; MUTATION; PATHOLOGY; RETINAL DETACHMENT; YOUNG ADULT;

ADOLESCENT; ADULT; CEREBRAL CORTEX; COLLAGEN TYPE XVIII; CONSANGUINITY; ENCEPHALOCELE; EXOME; FEMALE; FETUS; HUMANS; MALE; MUTATION; RETINAL DETACHMENT; YOUNG ADULT;

EID: 84912083992     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2014.08.025     Document Type: Article

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