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Journal article

Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.

Abstract:

Multiple pterygium syndromes (MPS) comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis). MPS are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal and nonlethal (Escobar) types. Previously, we and others reported that recessive mutations in the embryonal acetylcholine receptor g subunit (CHRNG) can cause both lethal and nonlethal MP...

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Publication status:
Published

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Publisher copy:
10.1016/j.ajhg.2007.09.016

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Journal:
American journal of human genetics
Volume:
82
Issue:
1
Pages:
222-227
Publication date:
2008-01-05
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:adb36acc-c979-4c3b-b72f-ea5631f647d6
Source identifiers:
324401
Local pid:
pubs:324401

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