Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans
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Berlin/Heidelberg: Springer Berlin Heidelberg
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English
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Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
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Contents
Arthrogryposis multiplex congenita (AMC) is an important birth defect with a significant genetic contribution. Many syndromic forms of AMC have been described, but remain unsolved at the molecular level. In this report, we describe a novel syndromic form of AMC in two multiplex consanguineous families from Saudi Arabia and Oman. The phenotype is hi...
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Full title
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans
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TN_cdi_proquest_miscellaneous_2343043121
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2343043121
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ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-020-02117-7
