Further characterization of NFIB-associated phenotypes: Report of two new individuals.

Marinella, Gemma; Conti, Eugenia; Buchignani, Bianca; Sgherri, Giada; Pasquariello, Rosa; Giordano, Flavio; Cristofani, Paola; Battini, Roberta; Battaglia, Agatino

Marinella, Gemma; Conti, Eugenia; Buchignani, Bianca; Sgherri, Giada; Pasquariello, Rosa; Giordano, Flavio; Cristofani, Paola; Battini, Roberta; Battaglia, Agatino.

Afiliación

Marinella G; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy.
Conti E; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy.
Buchignani B; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy.
Sgherri G; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Pisa, Italy.
Pasquariello R; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy.
Giordano F; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy.
Cristofani P; Department of Neurosurgery, Children's Hospital A. Meyer-University of Florence, Firenze, Florence, Italy.
Battini R; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy.
Battaglia A; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy.

Am J Med Genet A ; 191(2): 540-545, 2023 02.

Article en En | MEDLINE | ID: mdl-36321570

Asunto(s)

Anomalías Múltiples; Discapacidad Intelectual; Femenino; Humanos; Anomalías Múltiples/diagnóstico; Anomalías Múltiples/genética; Anomalías Múltiples/patología; Encéfalo/patología; Deleción Cromosómica; Hibridación Genómica Comparativa; Cuerpo Calloso/patología; Discapacidad Intelectual/diagnóstico; Discapacidad Intelectual/genética; Discapacidad Intelectual/patología; Factores de Transcripción NFI/genética; Fenotipo; Masculino; Niño; Adulto

Palabras clave

NFIB; brain/spinal cord malformation; developmental delay; intellectual disability; periventricular nodular heterotopia; syringomyelia

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Discapacidad Intelectual Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Italia

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