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Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability
Author(s) -
Blaesius Kathrin,
Abbasi Ansar A.,
Tahir Tufail H.,
Tietze Anna,
PickerMinh Sylvie,
Ali Ghazanfar,
Farooq Sundas,
Hu Hao,
Latif Zahid,
Khan Muhammad N.,
Kaindl Angela
Publication year - 2018
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38631
Subject(s) - microcephaly , hypoplasia , intellectual disability , transfer rna , pediatrics , gene , medicine , genetics , biology , rna
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