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Conference Paper: Infantile systemic hyalinosis presenting as multiple join pain

TitleInfantile systemic hyalinosis presenting as multiple join pain
Authors
KeywordsClinical Genetics and Dysmorphology
KW158 - Skeletal System
KW046 - Dysmorphology
KW029 - Clinical History
Issue Date2011
PublisherAmerican Society of Human Genetics/ICHG 2011.
Citation
The 2011 Joint Meeting of the International Congress of Human Genetics (ICHG) and American Society of Human Genetics (ASHG), Montreal, QC., Canada, 11-15 October 2011. How to Cite?
AbstractBACKGROUND: Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder characterized by abnormal hyaline deposits in the papillary dermis and other tissues. It presents in early infancy with severe pain with movement, progressive joint contractures, thickened skin and hyperpigmented macules over bony prominence. Gingival hypertrophy, skin nodules, peri...
DescriptionPoster Session - Clinical Genetics and Dysmorphology: program no. 1026F: abstract no. 266188
Persistent Identifierhttp://hdl.handle.net/10722/143412

 

DC FieldValueLanguage
dc.contributor.authorChung, Ben_US
dc.contributor.authorLausch, Een_US
dc.contributor.authorSuperti-Furga, Aen_US
dc.contributor.authorTan, TYen_US
dc.date.accessioned2011-11-24T10:06:41Z-
dc.date.available2011-11-24T10:06:41Z-
dc.date.issued2011en_US
dc.identifier.citationThe 2011 Joint Meeting of the International Congress of Human Genetics (ICHG) and American Society of Human Genetics (ASHG), Montreal, QC., Canada, 11-15 October 2011.en_US
dc.identifier.urihttp://hdl.handle.net/10722/143412-
dc.descriptionPoster Session - Clinical Genetics and Dysmorphology: program no. 1026F: abstract no. 266188-
dc.description.abstractBACKGROUND: Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder characterized by abnormal hyaline deposits in the papillary dermis and other tissues. It presents in early infancy with severe pain with movement, progressive joint contractures, thickened skin and hyperpigmented macules over bony prominence. Gingival hypertrophy, skin nodules, peri...-
dc.languageengen_US
dc.publisherAmerican Society of Human Genetics/ICHG 2011.-
dc.relation.ispartofICHG/ASHG Joint Meetingen_US
dc.subjectClinical Genetics and Dysmorphology-
dc.subjectKW158 - Skeletal System-
dc.subjectKW046 - Dysmorphology-
dc.subjectKW029 - Clinical History-
dc.titleInfantile systemic hyalinosis presenting as multiple join painen_US
dc.typeConference_Paperen_US
dc.identifier.emailChung, B: bhychung@hku.hken_US
dc.identifier.emailTan, TY: tanty@hku.hken_US
dc.identifier.authorityChung, B=rp00473en_US
dc.identifier.authorityTan, TY=rp01380en_US
dc.description.naturelink_to_OA_fulltext-
dc.identifier.hkuros197766en_US
dc.publisher.placeUnited States-

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