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Variant late‐infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion
Author(s) -
Allen NM,
O’hIci B,
Anderson G,
Nestor T,
Ann Lynch S,
King MD
Publication year - 2012
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2011.01777.x
Subject(s) - pediatric neurology , neuronal ceroid lipofuscinosis , neurology , medicine , medical genetics , batten disease , pediatrics , psychiatry , genetics , disease , biology , gene