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pro vyhledávání: '"Pengsiyuan Lin"'
Autor:
Jing Liu, Pengsiyuan Lin, Jialun Pang, Zhengjun Jia, Ying Peng, Hui Xi, Lingqian Wu, Zhuo Li, Hua Wang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
Abstract Background Treacher Collins syndrome (TCS) is the most common mandibulofacial dysostosis with an autosomal dominant or rarely recessive manner of inheritance. It is still challenging to make a definite diagnosis for affected fetuses with TCS
Externí odkaz:
https://doaj.org/article/9b6a9834d85b42c18698a0fe45769a57
Publikováno v:
Molecular Medicine Reports
Autosomal recessive cornea plana is a very rare hereditary ocular disease, characterized by a flattened corneal curvature, marked hyperopia due to low refractive power and frequently consequent accommodative esotropia. Other features include various
Autor:
Pengsiyuan Lin, Hui Xi, Hua Wang, Ying Peng, Zhengjun Jia, Jing Liu, Zhuo Li, Lingqian Wu, Jialun Pang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Treacher Collins syndrome (TCS) is the most common mandibulofacial dysostosis with an autosomal dominant or rarely recessive manner of inheritance. It is still challenging to make a definite diagnosis for affected fetuses with TCS only dep