Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB

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Bibliographic Details
Published in:Clinical genetics 2022-03, Vol.101 (3), p.377-378
Main Authors: Pascolini, Giulia, Passarelli, Chiara, Lipari, Martina, Chandramouli, Balasubramanian, Chillemi, Giovanni, Di Giosaffatte, Niccolo’, Novelli, Antonio, Grammatico, Paola
Format: Article
Language:English
Subjects:
Duane Retraction Syndrome - genetics
Duane's syndrome
Ear, Inner
Humans
Inner ear
MafB Transcription Factor - genetics
Pedigree
Phenotype
Phenotypes
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ISSN:0009-9163
1399-0004
DOI:10.1111/cge.14101