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UnknownADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.
Not available
S-EPMC1182109 | biostudies-literature
UnknownNovel homozygous ADAMTS17 missense variant in Weill-Marchesani syndrome.
Not available
S-EPMC10172099 | biostudies-literature
UnknownADAMTS10-mediated tissue disruption in Weill-Marchesani syndrome.
Not available
S-EPMC6196651 | biostudies-literature
UnknownCase report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome.
Not available
S-EPMC9554500 | biostudies-literature
UnknownIdentification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.
Not available
S-EPMC4538198 | biostudies-literature
UnknownFibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.
Not available
S-EPMC3487758 | biostudies-literature
ProteomicsCombined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and skin phenotypes
Weill-Marchesani syndrome (WMS) is characterized by severe short stature, in particular short hands and feet (brachydactyly), joint contractures, tight skin, and heart valve, eye, and skin anomalies. Whereas recessive WMS is caused by mutations in ADAMTS10, ADAMTS17, or LTBP2 (all recessive), domina...
ORGANISM(S): Homo sapiens (Human) 
2025-09-30 | PXD068317 | Pride
Weill marchesani syndrome Adamts proteases Fibrillin Short stature syndromes Extracellular matrix 
UnknownMissense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
Not available
S-EPMC3829633 | biostudies-literature
UnknownA novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.
Not available
S-EPMC7331723 | biostudies-literature
UnknownWeill-Marchesani syndrome 4 caused by compound heterozygosity of a maternal submicroscopic deletion and a paternal nonsense variant in the ADAMTS17 gene: A case report.
Not available
S-EPMC9046107 | biostudies-literature
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