Nance–Horan syndrome pedigree due to a novel microdeletion and skewed X chromosome inactivation
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DOI: 10.1002/mgg3.2100
Abstract: Nance–Horan syndrome (NHS) is a rare and often overlooked X‐linked dominant disorder characterized by dense congenital cataracts, dental abnormalities, and mental retardation. The majority of NHS variations include frameshift mutations, nonsense mutations, microdeletions, and insertions. read more here.
Keywords: horan syndrome; syndrome pedigree; nance horan; pedigree due ... See more keywords