Defect in phosphoinositide signalling through a homozygous variant in <i>PLCB3</i> causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.

Ben-Salem, Salma; Robbins, Sarah M; Lm Sobreira, Nara; Lyon, Angeline; Al-Shamsi, Aisha M; Islam, Barira K; Akawi, Nadia A; John, Anne; Thachillath, Pramathan; Al Hamed, Sania; Valle, David; Ali, Bassam R; Al-Gazali, Lihadh

Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.

Ben-Salem, Salma; Robbins, Sarah M; Lm Sobreira, Nara; Lyon, Angeline; Al-Shamsi, Aisha M; Islam, Barira K; Akawi, Nadia A; John, Anne; Thachillath, Pramathan; Al Hamed, Sania; Valle, David; Ali, Bassam R; Al-Gazali, Lihadh.

Afiliação

Ben-Salem S; Department of Pathology, College of Medicine and Heath Sciences, University Al-Ain, Al Ain, AbuDhabi, United Arab Emirates.
Robbins SM; Human Genetics and Molecular Biology, Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Lm Sobreira N; Human Genetics and Molecular Biology, Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Lyon A; Chemistry and Biological Sciences, West Lafayette, USA.
Al-Shamsi AM; Department of Paediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.
Islam BK; Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Akawi NA; Division of Cardiovascular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, Oxfordshire, UK.
John A; Department of Pathology, College of Medicine and Heath Sciences, University Al-Ain, Al Ain, AbuDhabi, United Arab Emirates.
Thachillath P; Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Al Hamed S; Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Valle D; Human Genetics and Molecular Biology, Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Ali BR; Department of Pathology, College of Medicine and Heath Sciences, University Al-Ain, Al Ain, AbuDhabi, United Arab Emirates.
Al-Gazali L; Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.

J Med Genet ; 55(2): 122-130, 2018 02.

Article em En | MEDLINE | ID: mdl-29122926

Assuntos

Distrofias Hereditárias da Córnea/genética; Osteocondrodisplasias/genética; Fosfatidilinositóis/metabolismo; Fosfolipase C beta/genética; Substituição de Aminoácidos; Criança; Pré-Escolar; Cromossomos Humanos Par 11; Distrofias Hereditárias da Córnea/etiologia; Deficiências do Desenvolvimento/etiologia; Deficiências do Desenvolvimento/genética; Feminino; Homozigoto; Humanos; Recém-Nascido; Deficiência Intelectual/genética; Masculino; Osteocondrodisplasias/etiologia; Linhagem; Fosfatidilinositóis/genética; Fosfolipase C beta/metabolismo; Transdução de Sinais/genética

Palavras-chave

disorganization of actin cytoskeletal network; hypomorphic variant; pip2 accumulation; plcb3; spondylometaphyseal dysplasia with corneal dystrophy (smdcd)

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Fosfatidilinositóis / Distrofias Hereditárias da Córnea / Fosfolipase C beta Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male / Newborn Idioma: En Revista: J Med Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Emirados Árabes Unidos

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