Hypomyelination and Congenital Cataract Broadening the Clinical Phenotype

Date
2011
Author
DI ROCCO, Maja
ZARA, Federico
ROSSI, Andrea
BIANCHERI, Roberta
MATHOT, Mikael
NASSOGNE, Marie Cecile
GAZZERRO, Elisabetta
Bugiani, Marianna
van Spaendonk, Resie
Sistermans, Erik A.
MINETTI, Carlo
van der Knaap, Marjo S.
Wolf, Nicole I.
Erturk, Ozdem
Tuysuz, Beyhan
Yalcinkaya, Cengiz
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Abstract
Objective: To further delineate the clinical spectrum of hypomyelination and congenital cataract (HCC), a rare autosomal recessive white matter disorder due to deficiency of a membrane protein, hyccin, encoded by FAM126A.
URI
http://hdl.handle.net/20.500.12627/94026
https://doi.org/10.1001/archneurol.2011.201
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