Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients-Reference-Cited by-同舟云学术

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Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients

Published:2008-01 Issue:1 Volume:82 Page:222-227
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Vogt Julie,Harrison Benjamin J.,Spearman Hayley,Cossins Judy,Vermeer Sascha,ten Cate Lambert Naudin,Morgan Neil V.,Beeson David,Maher Eamonn R.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference28 articles.

1. Limb pterygium syndromes: a review and report of eleven patients;Hall;Am. J. Med. Genet.,1982

2. The lethal multiple pterygium syndromes;Hall;Am. J. Med. Genet.,1984

3. Lethal multiple pterygium syndrome: suggestion for a consistent pathological workup and review of reported cases;Froster;Am. J. Med. Genet.,1997

4. Diversity of neuromuscular pathology in lethal multiple pterygium syndrome;Cox;Pediatr. Dev. Pathol.,2003

5. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome;Morgan;Am. J. Hum. Genet.,2006

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