Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling

BACKGROUND: Proximal symphalangism is a rare disease with multiple phenotypes including reduced proximal interphalangeal joint space, symphalangism of the 4th and/or 5th finger, as well as hearing loss. At present, at least two types of proximal symphalangism have been identified in the clinic. One...

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Detalles Bibliográficos
Autores principales: Ma, Cong, Liu, Lv, Wang, Fang-Na, Tian, Hai-Shen, Luo, Yan, Yu, Rong, Fan, Liang-Liang, Li, Ya-Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6836329/
https://www.ncbi.nlm.nih.gov/pubmed/31694554
http://dx.doi.org/10.1186/s12881-019-0917-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6836329/
https://www.ncbi.nlm.nih.gov/pubmed/31694554
http://dx.doi.org/10.1186/s12881-019-0917-5

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