Leopard syndrome: the potential cardiac defect underlying skin phenotypes

LEOPARD syndrome (OMIM #151,100) caused by a germline PTPN11 mutation are characterized as multisystemic anomalies and variable marked phenotypes such as multiple lentigines and cafe´-au-lait spots, electrocardiographic conduction abnormalities, ocular hypertelorism/obstructive cardiomyopathy, pulmo...

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Detalles Bibliográficos
Autores principales: Yue, Xiaojie, Zhao, Xiong, Dai, Yefeng, Yu., Lan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8422623/
https://www.ncbi.nlm.nih.gov/pubmed/34488904
http://dx.doi.org/10.1186/s41065-021-00199-5

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