Hypomyelination and Congenital Cataract Broadening the Clinical Phenotype

Authors
Publication date
1 January 2011
Publisher
'American Medical Association (AMA)'
Doi

    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

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