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Phenotypic Spectrum of the Recurrent TRPM3 P.(val837met) Substitution in Seven Individuals with Global Developmental Delay and Hypotonia

Matthew A. Lines,Paula Goldenberg, Ashley Wong,Siddharth Srivastava,Allan Bayat,Hanne Hove,Helena Gasdal Karstensen,Kwame Anyane-Yeboa,Jun Liao,Nan Jiang,Alison May,Edwin Guzman,Manuela Morleo,Stefano D'Arrigo,Claudia Ciaccio,Chiara Pantaleoni,Raffaele Castello,Shane McKee, Jinfon Ong, Hana Zibdeh-Lough,Frederic Tran-Mau-Them,Anna Gerasimenko,Delphine Heron,Boris Keren,Henri Margot,Jean-Madeleine de Sainte Agathe,Lydie Burglen,Thomas Voets,Joris Vriens,A. Micheil Innes,David A. Dyment

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2022）

Cited 11|Views51
Key words
Genematcher,global developmental delay,intellectual disability,seizures,TRPM3
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