Case Report: Prenatal Recurrent Microcephaly and Corpus Callosum Abnormalities in a Chinese Family with Novel Biallelic SASS6 Mutations.

Wah, Yi Man Isabella; Cao, Ye; Law, Chun Yiu; Choy, Kwong Wai; Leung, Tak Yeung; Kwan, Hoi Wan Angel; Poon, Liona C

Wah, Yi Man Isabella; Cao, Ye; Law, Chun Yiu; Choy, Kwong Wai; Leung, Tak Yeung; Kwan, Hoi Wan Angel; Poon, Liona C.

Afiliação

Wah YMI; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China.
Cao Y; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China.
Law CY; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, Hong Kong SAR, China.
Choy KW; Department of Pathology, Hong Kong Children's Hospital, Hong Kong SAR, China.
Leung TY; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China.
Kwan HWA; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, Hong Kong SAR, China.
Poon LC; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China.

Fetal Diagn Ther ; 50(2): 84-91, 2023.

Article em En | MEDLINE | ID: mdl-36739862

Assuntos

Microcefalia; Feminino; Humanos; Gravidez; Proteínas de Ciclo Celular/genética; Corpo Caloso/diagnóstico por imagem; Corpo Caloso/patologia; População do Leste Asiático; Microcefalia/diagnóstico por imagem; Microcefalia/genética; Mutação; Linhagem; Diagnóstico Pré-Natal

Palavras-chave

Corpus callosum agenesis; Prenatal diagnosis; Primary microcephaly; SASS6

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Guideline Limite: Female / Humans / Pregnancy Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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