Total: 1 |
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PMID (PMCID) | ||
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24214363 |
FEMALE | Adult |
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. | ||
Kochhar A, Kirmani S, Cetta F, Younge B, Hyland JC, Michels V. Am J Med Genet A. 2013;161A(12):3130-2. |
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Weill-Marchesani syndrome, on the basis of microspherophakia and ectopia lentis; geleophysic dysplasia by progressive cardiac valvular thickening, tracheal stenosis, and/or bronchopulmonary insufficiency, often leading to early death. |