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CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X‐linked infantile spasm syndrome
Author(s) -
CórdovaFletes C,
Rademacher N,
Müller I,
MundoAyala JN,
MoralesJeanhs EA,
GarcíaOrtiz JE,
LeónGil A,
Rivera H,
Domínguez MG,
Kalscheuer VM
Publication year - 2010
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.1399-0004.2009.01286.x
Subject(s) - humanities , girl , philosophy , biology , genetics