About: Microcephaly with chorioretinal dysplasia: two case reports and a review of the literature

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scientific article published on December 2009

Attributes	Values
rdf:type	Item
description	videnskabelig artikel (da) article científic (ca) articolo scientifico (it) artigo científico (pt) bilimsel makale (tr) vedecký článok (sk) vetenskaplig artikel (sv) vědecký článek (cs) wetenschappelijk artikel (nl) wissenschaftlicher Artikel (de) научни чланак (sr) article scientifique (fr) artículu científicu espublizáu en 2009 (ast) наукова стаття, опублікована в грудні 2009 (uk) مقالة علمية نشرت في ديسمبر 2009 (ar) scientific article published on December 2009 (en)
publication date	wds:Q37620356-5BC4112A-2E96-498A-ADEA-4E14DD1986DF
publication date	2009-12-01 00:00:00Z (xsd:dateTime)
cites work	wds:Q37620356-44194391-6399-4B4F-8624-AC2A3E2196D7 wds:Q37620356-7A61208E-CAFA-42C6-B9F5-7A97E12855AC wds:Q37620356-9D1F5321-41B6-42EC-AF3E-BAEA6202A30A wds:Q37620356-A3E33D90-0165-43F7-A7C2-FC8E2B5DFAF7 wds:Q37620356-A3FC65F7-657F-4C55-9BA0-4715979393C5 wds:Q37620356-CAD078E1-0021-4422-98A9-AC49C86C1191 wds:Q37620356-F124B469-9CBC-4B90-9613-C3697D200125 wds:Q37620356-FD712FB7-0E63-4C2D-B9C7-BECFCBC9C56C
cites work	Autosomal dominant microcephaly--lymphoedema-chorioretinal dysplasia syndrome Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature Chorioretinopathy With Hereditary Microcephaly Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype. Microcephaly with chorioretinal degeneration Microcephaly with chorioretinopathy. A report of two dominant families and three sporadic cases
author name string	wds:Q37620356-019FC151-A881-44F6-B072-285D49827529 wds:Q37620356-37D09943-E506-49B8-A21E-3F3F7CA7EEF8 wds:Q37620356-4D63884F-7E20-4560-9C3A-0782E008466D wds:Q37620356-547C327A-E807-4F80-A78B-91437AE9A3F7 wds:Q37620356-A2EC55A1-36ED-408F-80DC-58D7EC8F711E wds:Q37620356-CA1D43E9-B6C0-4DD7-9AFB-BE7E0BCC3439 wds:Q37620356-CACB1A54-B082-4D6A-B3F4-1F1E400F275A
author name string	Anthony T Moore S Biswas Abha Gupta Chris Lloyd G Dutton J Clayton Smith P Vasudevan
rdfs:label	Microcephaly with chorioretinal dysplasia: two case reports and a review of the literature (en) Microcephaly with chorioretinal dysplasia: two case reports and a review of the literature (nl) Microcephaly with chorioretinal dysplasia: two case reports and a review of the literature (ast)
skos:prefLabel	Microcephaly with chorioretinal dysplasia: two case reports and a review of the literature (en) Microcephaly with chorioretinal dysplasia: two case reports and a review of the literature (nl) Microcephaly with chorioretinal dysplasia: two case reports and a review of the literature (ast)
name	Microcephaly with chorioretinal dysplasia: two case reports and a review of the literature (en) Microcephaly with chorioretinal dysplasia: two case reports and a review of the literature (nl) Microcephaly with chorioretinal dysplasia: two case reports and a review of the literature (ast)
title	wds:Q37620356-A8A738A8-3744-4815-A993-7E7EF6A6AF08
title	Microcephaly with chorioretinal dysplasia: two case reports and a review of the literature (en)
page(s)	wds:Q37620356-37FCA4F5-D4FF-4CA9-B22E-8B6E4FB0A895
page(s)	157-160
instance of	wds:Q37620356-4597ea3d-d4fa-4c18-8e2c-dbc3477b5076 wds:Q37620356-7BA76C26-BCEB-4AA1-807F-88989030F3E8
instance of	review article scholarly article
main subject	wds:Q37620356-45ABE1A4-BDA3-460A-9981-3B75872E0E9A
main subject	microcephaly
PubMed ID	wds:Q37620356-23A4D6B2-B01D-4198-8211-575DED9ECBDE
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/19852571
PubMed ID	19852571
published in	wds:Q37620356-C541A47B-EB44-4738-A48B-4BF3CCA3FD1F
published in	Ophthalmic Genetics
issue	wds:Q37620356-53EF0F3F-E4FC-4565-A10E-CCF90FF3EF9F
volume	wds:Q37620356-8F3EC37B-912A-4804-9766-65233A434A9A
issue	4
volume	30
DOI	wds:Q37620356-0227D475-8C51-49BB-A48F-2C295E22E7F5
DOI	http://dx.doi.org/10.3109/13816810903147980
DOI	10.3109/13816810903147980
skos:altLabel	Microcephaly with chorioretinal dysplasia: Two case reports and a review of the literature (en)
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q37620356
is cites work of	No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.
is cites work of	wds:Q21146647-676E75ED-48AA-4701-9EB8-86B5BC651739 wds:Q41934173-D3F73872-3C70-4900-8929-6351014E78C9 wds:Q41928102-578BD73D-DF7C-4B12-B268-6C22FED7130B

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