Mutations in the embryonal subunit of the Acetylcholine receptor (CHRNG) cause lethal and Escobar variants of Multiple Pterygium Syndrome.

N Morgan, LA Brueton, P Cox, MT Greally, J Tolmie, S Pasha, IA Aligianis, H van Bokhoven, T Marton, L Al Gazali, J Morton, C Oley, CA Johnson, RC Trembath, HG Brunner, ER Maher

Research output: Contribution to journalMeeting abstract

126 Citations (Scopus)
Original languageEnglish
Pages (from-to)S16 - S16
Number of pages6
JournalJournal of Medical Genetics
Issue number2
Publication statusPublished - Aug 2006
EventBritish Human Genetics Conferecne 2006 - York, England, United Kingdom
Duration: 18 Sept 200620 Sept 2006

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