Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB.
作者信息
Pascolini Giulia, Passarelli Chiara, Lipari Martina, Chandramouli Balasubramanian, Chillemi Giovanni, Di Giosaffatte Niccolo', Novelli Antonio, Grammatico Paola
机构信息
Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
出版信息
Clin Genet. 2022 Mar;101(3):377-378. doi: 10.1111/cge.14101. Epub 2021 Dec 28.
PMID:34964110
Abstract
摘要
Zotero 插件