A novel variant of IHH in a Chinese family with brachydactyly type 1

BACKGROUND: Brachydactyly type A1(BDA-1) is an autosomal dominant disorder which is caused by heterozygous pathogenic variants in a specific region of the N-terminal active fragment of Indian Hedgehog (IHH). The disorder is mainly characterized by shortening or missing of the middle phalanges. In th...

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Detalles Bibliográficos
Autores principales: Yang, Qi, Wang, Jin, Tian, Xiaoxian, Shen, Fei, Lan, Jing, Zhang, Qiang, Fan, Xin, Yi, Shang, Li, Mengting, Shen, Yiping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7092535/
https://www.ncbi.nlm.nih.gov/pubmed/32209048
http://dx.doi.org/10.1186/s12881-020-01000-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7092535/
https://www.ncbi.nlm.nih.gov/pubmed/32209048
http://dx.doi.org/10.1186/s12881-020-01000-6

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