Intrafamilial Phenotypic Heterogeneity in a Chinese Family with a <i>POLR1D</i> p.Q31Rfs*10 Variant: A Challenge in Prenatal Diagnosis.

Yang, Yan-Dong; Zhen, Li; Li, Dong-Zhi

Intrafamilial Phenotypic Heterogeneity in a Chinese Family with a POLR1D p.Q31Rfs*10 Variant: A Challenge in Prenatal Diagnosis.

Yang, Yan-Dong; Zhen, Li; Li, Dong-Zhi.

Afiliação

Yang YD; Ultrasound Department, The Sixth Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
Zhen L; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou, China.
Li DZ; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou, China.

Mol Syndromol ; 13(4): 328-331, 2022 Jul.

Article em En | MEDLINE | ID: mdl-36158048

Palavras-chave

Mandibulofacial dysostosis; POLR1D; Phenotypic variability; Prenatal diagnosis; Treacher Collins syndrome

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Mol Syndromol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China

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