Literature DB >> 9677068

Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies.

C Wilson1, S Aftimos, A Pereira, R McKay.   

Abstract

We report on two sibs with high myopia, vitreoretinal degeneration (VRD), and occipital encephalocoele or scalp lesion. We review the literature on Knobloch syndrome, discuss possible causes, and suggest a possible involvement of mesoderm in the morphogenesis. One case presents with very early onset of severe eye disease, whereas the other is notable for the very mild scalp defect. In addition, both appear to have an unusual pulmonary lymphatic condition.

Entities:  

Mesh：

Year:  1998        PMID： 9677068     DOI： 10.1002/(sici)1096-8628(19980707)78:3<286::aid-ajmg16>3.0.co;2-b

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  10 in total

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Journal:  Nat Rev Gastroenterol Hepatol       Date:  2012-07-10       Impact factor: 46.802

2.  Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.

Authors:  O T Suzuki; A L Sertié; V M Der Kaloustian; F Kok; M Carpenter; J Murray; A E Czeizel; S E Kliemann; S Rosemberg; M Monteiro; B R Olsen; M R Passos-Bueno
Journal:  Am J Hum Genet       Date:  2002-11-01       Impact factor: 11.025

Review 3.  Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.

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4.  Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.

Authors:  Vinit B Mahajan; Ann Haskins Olney; Penny Garrett; Ajit Chary; Ecaterina Dragan; Gary Lerner; Jeffrey Murray; Alexander G Bassuk
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Review 5.  Endostatin's emerging roles in angiogenesis, lymphangiogenesis, disease, and clinical applications.

Authors:  Amit Walia; Jessica F Yang; Yu-Hui Huang; Mark I Rosenblatt; Jin-Hong Chang; Dimitri T Azar
Journal:  Biochim Biophys Acta       Date:  2015-09-12

6.  Deletion of the basement membrane heparan sulfate proteoglycan type XVIII collagen causes hypertriglyceridemia in mice and humans.

Authors:  Joseph R Bishop; Maria Rita Passos-Bueno; Loren Fong; Kristin I Stanford; Jon C Gonzales; Erika Yeh; Stephen G Young; Andre Bensadoun; Joseph L Witztum; Jeffrey D Esko; Karen S Moulton
Journal:  PLoS One       Date:  2010-11-10       Impact factor: 3.240

7.  Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.

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Journal:  PLoS One       Date:  2014-11-13       Impact factor: 3.240

8.  Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports.

Authors:  Robert J White; Yao Wang; Peter Tang; Sandra R Montezuma
Journal:  BMC Ophthalmol       Date:  2017-11-25       Impact factor: 2.209

9.  Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.

Authors:  Oscar Suzuki; Erika Kague; Kelly Bagatini; Hongmin Tu; Ritva Heljasvaara; Lorenza Carvalhaes; Elisandra Gava; Gisele de Oliveira; Paulo Godoi; Glaucius Oliva; Gregory Kitten; Taina Pihlajaniemi; Maria-Rita Passos-Bueno
Journal:  Mol Vis       Date:  2009-04-23       Impact factor: 2.367

Review 10.  The role of basement membranes in cardiac biology and disease.

Authors:  Erin Boland; Fabio Quondamatteo; Tom Van Agtmael
Journal:  Biosci Rep       Date:  2021-08-27       Impact factor: 3.840
  10 in total

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