A Novel Pathogenic Variant in the <i>MN1</i> Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome.

Palma Milla, Carmen; Patricia, Pérez Mohand; Lezana, José M; Cruz, Jaime; Quesada, Juan F; Vila, Sara; Álvarez-Mora, Isabel; Arteche-López, Ana; Gómez-Manjón, Irene; Sánchez, M Teresa; Gómez-Rodríguez, Maria José; Sánchez, Jaime; Moreno-García, Marta

A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome.

Palma Milla, Carmen; Patricia, Pérez Mohand; Lezana, José M; Cruz, Jaime; Quesada, Juan F; Vila, Sara; Álvarez-Mora, Isabel; Arteche-López, Ana; Gómez-Manjón, Irene; Sánchez, M Teresa; Gómez-Rodríguez, Maria José; Sánchez, Jaime; Moreno-García, Marta.

Afiliação

Palma Milla C; Department of Genetics, Hospital Universitario Doce de Octubre, Madrid, Spain.
Patricia PM; Department of Pediatric Endocrinology, Hospital Universitario Doce de Octubre, Madrid, Spain.
Lezana JM; Department of Genetics, Hospital Universitario Doce de Octubre, Madrid, Spain.
Cruz J; Department of Pediatric Endocrinology, Hospital Universitario Doce de Octubre, Madrid, Spain.
Quesada JF; Department of Genetics, Hospital Universitario Doce de Octubre, Madrid, Spain.
Vila S; Department of Pediatric Neurology, Hospital Universitario Doce de Octubre, Madrid, Spain.
Álvarez-Mora I; Department of Genetics, Hospital Universitario Doce de Octubre, Madrid, Spain.
Arteche-López A; Department of Genetics, Hospital Universitario Doce de Octubre, Madrid, Spain.
Gómez-Manjón I; Department of Genetics, Hospital Universitario Doce de Octubre, Madrid, Spain.
Sánchez MT; Department of Genetics, Hospital Universitario Doce de Octubre, Madrid, Spain.
Gómez-Rodríguez MJ; Department of Genetics, Hospital Universitario Doce de Octubre, Madrid, Spain.
Sánchez J; Department of Pediatric Endocrinology, Hospital Universitario Doce de Octubre, Madrid, Spain.
Moreno-García M; Department of Genetics, Hospital Universitario Doce de Octubre, Madrid, Spain.

J Pediatr Genet ; 12(3): 254-257, 2023 Sep.

Article em En | MEDLINE | ID: mdl-37575653

Palavras-chave

MN1; MN1 C-terminal truncation (MCTT) syndrome and craniofacial anomalies; rhombencephalosynapsis

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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Idioma: En Revista: J Pediatr Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Espanha

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