LEOPARD Syndrome with PTPN11 Gene Mutation in Three Family Members Presenting with Different Phenotypes

LEOPARD syndrome (LS) is a rare autosomal dominant disorder that is characterized by multiple lentigines and various congenital anomalies. The clinical diagnosis of LS requires molecular confirmation. The most frequently reported mutations in LS patients are in the protein tyrosine phosphatase nonre...

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Foilsithe in:J Pediatr Genet
Main Authors: Alfurayh, Nuha, Alsaif, Fahad, Alballa, Nouf, Zeitouni, Leena, Ramzan, Khushnooda, Imtiaz, Faiqa, Alakeel, Abdullah
Formáid: Artigo
Teanga:Inglês
Foilsithe: Georg Thieme Verlag KG 2020
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7396475/
https://ncbi.nlm.nih.gov/pubmed/32765928
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-3400226
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