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Browse result for Weill-Marchesani syndrome
※ introduction Weill¨CMarchesani syndrome is a rare genetic disorder characterized by short stature; an unusually short, broad head (brachycephaly) and other facial abnormalities; hand defects, including unusually short fingers (brachydactyly); and distinctive eye (ocular) abnormalities. It was named after ophthalmologists Georges Weill (1866¨C1952) and Oswald Marchesani (1900¨C1952) who first described it in 1932 and 1939, respectively.
The eye manifestations typically include unusually small, round lenses of the eyes (microspherophakia), which may be prone to dislocating (ectopia lentis), as well as other ocular defects. Due to such abnormalities, affected individuals may have varying degrees of visual impairment, ranging from nearsightedness myopia to blindness. Weill¨CMarchesani syndrome may have autosomal recessive inheritance involving the ADAMTS10 gene, or autosomal dominant inheritance involving the FBN1 gene. In some cases there is no association with either of these genes.
Reference
Wiki: Weill-Marchesani syndrome
Reference
Wiki: Weill-Marchesani syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD06815 | Q14767 | 4053 | LTBP2 | Latent-transforming growth factor beta-binding protein 2 | Homo sapiens |
| PTMD10413 | Q8TE56 | 17069 | ADAMTS17 | A disintegrin and metalloproteinase with thrombospondin motifs 17 | Homo sapiens |
