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271863 occurrences (No.95 in the rank) during 5 years in the PubMed. [no cache] 500 found
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271863 occurrences (No.95 in the rank) during 5 years in the PubMed. [no cache] 500 found
| 380) Herein, we describe the cardiac features in three Saudi sisters with proved autosomal recessive geleophysic dysplasia who showed different levels of severity of their cardiac involvement. |
| PMID:24192049 DOI:10.1017/S1047951113001753 |
| 2015 Cardiology in the young |
| * Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family. |
| - Geleophysic dysplasia is an extremely rare acromelic skeletal dysplasia resembling lysosomal storage disease. It is characterised by characteristic facial phenotype, short stature, micromelia, joint contracture, and early cardiac valvular involvement. It has been described worldwide in <40 patients. Herein, we describe the cardiac features in three Saudi sisters with proved autosomal recessive geleophysic dysplasia who showed different levels of severity of their cardiac involvement. |
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--- WordNet output for who ---