Novel Causative Variants in Legius Syndrome: SPRED1 Genotype Spectrum Expansion

Cristina Chelleri,Noemi Brolatti,Patrizia De Marco,Marzia Ognibene,Maria Cristina Diana,Francesca Madia,Marco Di Duca,Andrea Santangelo,Valeria Capra,Pasquale Striano,Federico Zara,Marcello Scala

American journal of medical genetics Part A（2024）

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caf & eacute,-au-lait macules,freckling,Legius syndrome,neurofibromatosis type 1-like syndrome,RAS-MAPK signaling,SPRED1

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