Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia

TRPM3 encodes a transient receptor potential cation channel of the melastatin family, expressed in the central nervous system and in peripheral sensory neurons of the dorsal root ganglia. The recurrent substitution in TRPM3: c.2509G>A, p.(Val837Met) has been associated with syndromic intellectual...

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Veröffentlicht in:	American journal of medical genetics. Part A 2022-06, Vol.188 (6), p.1667-1675
Hauptverfasser:	Lines, Matthew A., Goldenberg, Paula, Wong, Ashley, Srivastava, Siddharth, Bayat, Allan, Hove, Hanne, Karstensen, Helena Gásdal, Anyane‐Yeboa, Kwame, Liao, Jun, Jiang, Nan, May, Alison, Guzman, Edwin, Morleo, Manuela, D'Arrigo, Stefano, Ciaccio, Claudia, Pantaleoni, Chiara, Castello, Raffaele, McKee, Shane, Ong, Jinfon, Zibdeh‐Lough, Hana, Tran‐Mau‐Them, Frederic, Gerasimenko, Anna, Heron, Delphine, Keren, Boris, Margot, Henri, Sainte Agathe, Jean‐Madeleine, Burglen, Lydie, Voets, Thomas, Vriens, Joris, Innes, A. Micheil, Dyment, David A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Bone dysplasia Central nervous system Child Children Convulsions & seizures Developmental Disabilities Developmental Disabilities - genetics Dorsal root ganglia Epilepsy Exome Sequencing Genematcher global developmental delay Hip Hip dislocation Humans Infant, Newborn Infant, Newborn, Diseases Intellectual disabilities Intellectual Disability Intellectual Disability - genetics Life Sciences Muscle Hypotonia Muscle Hypotonia - genetics Mutation, Missense Neurons and Cognition Scoliosis Seizures Sensory neurons Transient receptor potential proteins TRPM Cation Channels TRPM Cation Channels - genetics TRPM3 Whole Exome Sequencing
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