Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome-Reference-Cited by-同舟云学术

Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

Published:2006-08 Issue:2 Volume:79 Page:390-395
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Morgan Neil V.,Brueton Louise A.,Cox Phillip,Greally Marie T.,Tolmie John,Pasha Shanaz,Aligianis Irene A.,van Bokhoven Hans,Marton Tamas,Al-Gazali Lihadh,Morton Jenny E.V.,Oley Christine,Johnson Colin A.,Trembath Richard C.,Brunner Han G.,Maher Eamonn R.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference22 articles.

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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. Multiple pterygium syndrome;Escobar;Am J Dis Child,1978

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