About: Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia

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rdf:type	Item
description	article (en) ലേഖനം (ml) wetenschappelijk artikel (nl) наукова стаття, опублікована в січні 2014 (uk) article scientifique publié en 2014 (fr) im Januar 2014 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q56786102-6B94CBD9-832E-4EF8-AE34-294AA20DB687
publication date	2014-01-16 00:00:00Z (xsd:dateTime)
cites work	wds:Q56786102-3CCAFF16-6360-41CF-9BD7-E2221EEDA547 wds:Q56786102-5230E853-41AE-4B7A-B670-8A16084FD169 wds:Q56786102-757D3409-D4BA-4233-BFA7-879C0A0CA5B9 wds:Q56786102-B0DFA028-8BF8-48E4-B75C-2945BC25352B wds:Q56786102-BD876D99-82FE-461D-B0E7-B9CFA8A8F744 wds:Q56786102-DC413309-B7EC-4594-9EAC-0E5ADB635083 wds:Q56786102-E2D92D4F-A4AF-486A-A5D1-62FE76271F50 wds:Q56786102-E7F3F8BF-5048-4539-9547-88B167619B5B wds:Q56786102-FCCB78E7-B9EC-43E1-ADB4-98F5CC9496E2
cites work	Mild Nijmegen breakage syndrome phenotype due to alternative splicing Pax genes during neural development and their potential role in neuroregeneration PAX genes: roles in development, pathophysiology, and cancer Pax6 expressed in osteocytes inhibits canonical Wnt signaling Clinical and molecular aspects of aniridia Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA. Splice site mutations in the ATP7A gene. Aniridia. Clinical features of Korean patients with congenital aniridia
author name string	wds:Q56786102-0D46302D-4CFB-45B1-BAFD-DEE326606B15 wds:Q56786102-40DB9905-B769-4EE5-B046-EB6892DCAB34 wds:Q56786102-4954AD28-D24D-479D-B668-B4057AC484C3 wds:Q56786102-4DE37828-D9F7-43A5-88F4-1507762BA235 wds:Q56786102-4EEC7728-E965-4EFB-9686-D1BF962F62D7 wds:Q56786102-67992260-85DE-4864-88B6-B87D52326083 wds:Q56786102-710B0E25-B206-4BA3-A392-C78EF6CCD75D wds:Q56786102-A3C59B60-1938-4E54-AFC6-ED98E7A92695 wds:Q56786102-DBBC3392-FD7E-44AA-8CE0-9E482B4DE24A wds:Q56786102-F6C72A9C-9C9D-4D72-982B-5B92092C88F4 wds:Q56786102-FCE061CB-9AD7-4BF9-82E2-0C4F99E5CC42 wds:Q56786102-FE6C839D-9842-447C-A646-F066F1A06CFF
author name string	A Ruiz-Linares M J Santos T Hünemeier V R Paixão-Côrtes V Ramallo A K M de Andrade A S Fernandes B N L Coronado F C Biondi H P Monte Filho R L de Omena Filho Z S Fernandes-Lima
rdfs:label	Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia (en) Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia (nl)
skos:prefLabel	Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia (en) Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia (nl)
name	Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia (en) Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia (nl)
author	wds:Q56786102-3F7A3D0A-20B5-4EA7-93FA-43DBF36DEFFE wds:Q56786102-AD635372-10B8-47F8-9012-459E8B78B69E
author	Lavinia Schuler-Faccini Isabella Lopes Monlleó
title	wds:Q56786102-41F92759-9DAF-4DA4-832F-CEA17D3F44D9
title	Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia (en)
page(s)	wds:Q56786102-B3100BED-9A0E-4A74-940B-F41EE081038D
page(s)	68-73
instance of	wds:Q56786102-3D4C99E5-0101-4F86-A747-90BBFC9F49E1
instance of	scholarly article
main subject	wds:Q56786102-F62AA25E-3224-4371-B0C2-1941450F32C3
main subject	aniridia
PubMed ID	wds:Q56786102-95532AE4-425B-4909-B4D0-788E08F9F0F0
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/24266705
PubMed ID	24266705
published in	wds:Q56786102-999DFE85-DF95-4CF3-8760-86865C2A81CC
published in	Clinical Genetics
issue	wds:Q56786102-B2C56853-44C8-4E0F-9F78-45365A35EBA6
volume	wds:Q56786102-E276DB37-0C0C-4146-92B8-15AF8E06EC57
issue	1
volume	87
DOI	wds:Q56786102-37311F7A-9C03-405B-89CE-577355388D75
DOI	http://dx.doi.org/10.1111/CGE.12329
DOI	10.1111/CGE.12329
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q56786102
is cites work of	From rumors to genetic isolates
is cites work of	wds:Q37697820-7D0E8924-9FB2-4D8B-AD8B-DAD2B6A87CD9

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