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Conference Paper: Infantile systemic hyalinosis presenting as multiple join pain
| Title | Infantile systemic hyalinosis presenting as multiple join pain |
|---|---|
| Authors | |
| Keywords | Clinical Genetics and Dysmorphology KW158 - Skeletal System KW046 - Dysmorphology KW029 - Clinical History |
| Issue Date | 2011 |
| Publisher | ICHG/ASHG 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? |
| Abstract | BACKGROUND: 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... |
| Description | Poster Session - Clinical Genetics and Dysmorphology: program no. 1026F: abstract no. 266188 |
| Persistent Identifier | http://hdl.handle.net/10722/143412 |
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Chung, B | en_US |
| dc.contributor.author | Lausch, E | en_US |
| dc.contributor.author | Superti-Furga, A | en_US |
| dc.contributor.author | Tan, TY | en_US |
| dc.date.accessioned | 2011-11-24T10:06:41Z | - |
| dc.date.available | 2011-11-24T10:06:41Z | - |
| dc.date.issued | 2011 | en_US |
| dc.identifier.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. | en_US |
| dc.identifier.uri | http://hdl.handle.net/10722/143412 | - |
| dc.description | Poster Session - Clinical Genetics and Dysmorphology: program no. 1026F: abstract no. 266188 | - |
| dc.description.abstract | BACKGROUND: 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.language | eng | en_US |
| dc.publisher | ICHG/ASHG 2011. | - |
| dc.relation.ispartof | ICHG-ASHG 2011 Joint Meeting | en_US |
| dc.subject | Clinical Genetics and Dysmorphology | - |
| dc.subject | KW158 - Skeletal System | - |
| dc.subject | KW046 - Dysmorphology | - |
| dc.subject | KW029 - Clinical History | - |
| dc.title | Infantile systemic hyalinosis presenting as multiple join pain | en_US |
| dc.type | Conference_Paper | en_US |
| dc.identifier.email | Chung, B: bhychung@hku.hk | en_US |
| dc.identifier.email | Tan, TY: tanty@hku.hk | en_US |
| dc.identifier.authority | Chung, B=rp00473 | en_US |
| dc.identifier.authority | Tan, TY=rp01380 | en_US |
| dc.description.nature | link_to_OA_fulltext | - |
| dc.identifier.hkuros | 197766 | en_US |
| dc.publisher.place | United States | - |