Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene

Multiple-lentigines (ML)/LEOPARD (multiple lentigines, electrocardiographic-conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) syndrome is an autosomal dominant condition—characterized by lentigines and café au l...

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Bibliografske podrobnosti
izdano v:Am J Hum Genet
Main Authors: Digilio, Maria Cristina, Conti, Emanuela, Sarkozy, Anna, Mingarelli, Rita, Dottorini, Tania, Marino, Bruno, Pizzuti, Antonio, Dallapiccola, Bruno
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2002
Teme:
Report
Online dostop:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC379170/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12058348/
https://ncbi.nlm.nih.govhttps://doi.org/10.1086/341528
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