De novo 22q11.2 deletions and auricular findings in two Chinese patients with microtia.

Si, Nuo; Zhang, Zeya; Huang, Xin; Wang, Chanchen; Guo, Peipei; Pan, Bo; Jiang, Haiyue

Si, Nuo; Zhang, Zeya; Huang, Xin; Wang, Chanchen; Guo, Peipei; Pan, Bo; Jiang, Haiyue.

Afiliação

Si N; Plastic Surgery Hospital, Peking Union Medical College and Chinese Academy of Medical Science, Beijing, China.
Zhang Z; Plastic Surgery Hospital, Peking Union Medical College and Chinese Academy of Medical Science, Beijing, China.
Huang X; Plastic Surgery Hospital, Peking Union Medical College and Chinese Academy of Medical Science, Beijing, China.
Wang C; Plastic Surgery Hospital, Peking Union Medical College and Chinese Academy of Medical Science, Beijing, China.
Guo P; Plastic Surgery Hospital, Peking Union Medical College and Chinese Academy of Medical Science, Beijing, China.
Pan B; Plastic Surgery Hospital, Peking Union Medical College and Chinese Academy of Medical Science, Beijing, China.
Jiang H; Plastic Surgery Hospital, Peking Union Medical College and Chinese Academy of Medical Science, Beijing, China.

Mol Genet Genomic Med ; 10(1): e1862, 2022 01.

Article em En | MEDLINE | ID: mdl-34971493

Assuntos

Microtia Congênita; Síndrome de DiGeorge; Povo Asiático/genética; Microtia Congênita/genética; Variações do Número de Cópias de DNA; Síndrome de DiGeorge/genética; Humanos; Fenótipo

Palavras-chave

22q11.2 deletion; CDC45 gene; auricular phenotype; copy number variations; microtia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de DiGeorge / Microtia Congênita Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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