Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report

BACKGROUND: Pathogenic variants in POC1A led to SOFT syndrome and variant POC1A-related (vPOC1A) syndrome. SOFT syndrome is a rare primordial dwarfism condition characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis.The main clinical differences between SOFT and vPOC1A...

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Detalles Bibliográficos
Autores principales: Li, Guoqiang, Chang, Guoying, Wang, Chen, Yu, Tingting, Li, Niu, Huang, Xiaodong, Wang, Xiumin, Wang, Jian, Wang, Jiwen, Yao, Ruen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8379828/
https://www.ncbi.nlm.nih.gov/pubmed/34419044
http://dx.doi.org/10.1186/s12920-021-01055-1

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