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Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

Abstract:

Geleophysic (GD) and acromicric dysplasia (AD) belong to the acromelic dysplasia group and are both characterized by severe short stature, short extremities, and stiff joints. Although AD has an unknown molecular basis, we have previously identified ADAMTSL2 mutations in a subset of GD patients. After exome sequencing in GD and AD cases, we selected fibrillin 1 (FBN1) as a candidate gene, even though mutations in this gene have been described in Marfan syndrome, which is characterized by tall...

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Publication status:
Published

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Publisher copy:
10.1016/j.ajhg.2011.05.012

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Journal:
American journal of human genetics
Volume:
89
Issue:
1
Pages:
7-14
Publication date:
2011-07-05
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:4909e7d7-ac4e-4619-b4ac-554ba18c497e
Source identifiers:
311896
Local pid:
pubs:311896

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