A case of female-restricted Wieacker-Wolff syndrome with heart and endocrinological involvement.

Decio, Alice; Marelli, Susan; Mambretti, Fabiana; Bassi, Maria Teresa; D'Angelo, Maria Grazia

Decio, Alice; Marelli, Susan; Mambretti, Fabiana; Bassi, Maria Teresa; D'Angelo, Maria Grazia.

Afiliação

Decio A; Unit of Rehabilitation of Rare Diseases of the Central and Peripheral Nervous System, Scientific Institute IRCCS E. Medea, Via Don L. Monza 20, 23842, Bosisio Parini (LC), Italy. alice.decio@lanostrafamiglia.it.
Marelli S; Unit of Rehabilitation of Rare Diseases of the Central and Peripheral Nervous System, Scientific Institute IRCCS E. Medea, Via Don L. Monza 20, 23842, Bosisio Parini (LC), Italy.
Mambretti F; Molecular Biology Laboratory, IRCCS Eugenio Medea, Bosisio Parini (LC), Italy.
Bassi MT; Molecular Biology Laboratory, IRCCS Eugenio Medea, Bosisio Parini (LC), Italy.
D'Angelo MG; Unit of Rehabilitation of Rare Diseases of the Central and Peripheral Nervous System, Scientific Institute IRCCS E. Medea, Via Don L. Monza 20, 23842, Bosisio Parini (LC), Italy.

Neurol Sci ; 45(8): 4077-4081, 2024 Aug.

Article em En | MEDLINE | ID: mdl-38483676

Assuntos

Doenças Genéticas Ligadas ao Cromossomo X; Oftalmoplegia; Adulto; Feminino; Humanos; Apraxias; Contratura; Atrofia Muscular

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Oftalmoplegia / Doenças Genéticas Ligadas ao Cromossomo X Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article

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