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The Arg99Gln Substitution in HNRNPC is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies

Luigi Chiriatti,Manuela Priolo,Roberta Onesimo, Mattia Carvetta,Chiara Leoni,Alessandro Bruselles,Francesca Clementina Radio,Camilla Cappelletti,Marco Ferilli,Daniela Ricci,Marcello Niceta,Viviana Cordeddu,Andrea Ciolfi,Cecilia Mancini,Giuseppe Zampino,Marco Tartaglia

Genes（2025）

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关键词
MRD74,phenotypic heterogeneity,CHARGE syndrome,cochlear aplasia,coloboma,microphthalmia,genotype-phenotype correlations
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