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De novo <i>TRPM3</i> missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.

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第一作者： Jagadish Chandrabose,Sundaramurthi

第一单位： The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.

作者： Jagadish Chandrabose,Sundaramurthi ^[1] ; Anita M,Bagley ^[2] ; Hannah,Blau ^[1] ; Leigh,Carmody ^[1] ; Amy,Crandall ^[3] ; Daniel,Danis ^[1] ; Michael A,Gargano ^[1] ; Anxhela Gjyshi,Gustafson ^[4] ; Ellen M,Raney ^[3] ; Mallory,Shingle ^[2] ; Jon R,Davids ^[5] ; Peter N,Robinson ^[6]

作者单位： The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA. ^[1] Shriners Children's Northern California, Sacramento, California 95817, USA. ^[2] Shriners Children's, Portland, Oregon 97239, USA. ^[3] Shriners Children's Genomics Institute, Tampa, Florida 33612, USA. ^[4] Shriners Children's Northern California, Sacramento, California 95817, USA.;Department of Orthopaedic Surgery, University of California Davis Health, Sacramento, California 95817, USA. ^[5] The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA; peter.robinson@jax.org.;Institute for Systems Genomics, University of Connecticut, Farmington, Connecticut 06032, USA. ^[6]

关键词 absent speech bilateral convulsive seizures bilateral talipes equinovarus broad forehead deeply set eye intellectual disability, moderate language impairment moderate global developmental delay thoracic scoliosis torticollis

医学主题词人类(Humans);脑性瘫痪(Cerebral Palsy);突变, 误义(Mutation, Missense);表型(Phenotype);神经系统畸形(Nervous System Malformations);TRPM阳离子通道(TRPM Cation Channels)

DOI 10.1101/mcs.a006293

PMID 37684057

发布时间 2024-10-23

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