Leopard syndrome: the potential cardiac defect underlying skin phenotypes

Abstract 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 cardiomyopat...

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Bibliographic Details
Main Authors: Xiaojie Yue, Xiong Zhao, Yefeng Dai, Lan Yu.
Format: Article
Language:English
Published: BMC 2021-09-01
Series:Hereditas
Subjects:
Online Access:https://doi.org/10.1186/s41065-021-00199-5