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Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants
Author(s) -
SantosSimarro F.,
Vallespin E.,
Pozo A.,
Ibañez K.,
Silla J.C.,
Fernandez L.,
Nevado J.,
GonzálezPecellín H.,
Montaño V.E.F.,
Martin R.,
Alba Valdivia L.I.,
GarcíaMiñaúr S.,
Lapunzina P.,
PalomaresBralo M.
Publication year - 2017
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/cge.12965
Subject(s) - coloboma , medicine , genetics , biology , ophthalmology , optometry