Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations.

Elhossini, Rasha M; Elbendary, Hasnaa M; Rafat, Karima; Ghorab, Raghda M; Abdel-Hamid, Mohamed S

Elhossini, Rasha M; Elbendary, Hasnaa M; Rafat, Karima; Ghorab, Raghda M; Abdel-Hamid, Mohamed S.

Afiliação

Elhossini RM; Clinical Genetics Department, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt. rasha_elhossini@yahoo.com.
Elbendary HM; Clinical Genetics Department, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.
Rafat K; Clinical Genetics Department, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.
Ghorab RM; Immunogenetics Department, Human Genetics and Genome Research Institute, National Research Centre, El-Bohous Street, El-Dokki, Cairo, 12622, Egypt.
Abdel-Hamid MS; Medical Molecular Genetics Department, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.

Mol Genet Genomics ; 298(3): 709-720, 2023 May.

Article em En | MEDLINE | ID: mdl-37010587

Assuntos

Doenças Autoimunes; Humanos; Fosfatase Ácida Resistente a Tartarato/genética; Doenças Autoimunes/complicações; Doenças Autoimunes/genética; Mutação; Hormônio do Crescimento/genética

Palavras-chave

ACP5 gene; Growth hormone; Immune dysregulation; Intracranial calcifications; SPENCD; Spondyloenchondrodysplasia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Autoimunes Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Mol Genet Genomics Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Egito

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