Open AccessNitrogen Permease Regulator Like-2 (NPRL2) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations
Author(s) -
X Q Zhou,
Fengying Chen,
Xingguang Ye,
Zhigang Liu
Publication year - 2022
Publication title -
clinical dysmorphology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.318
H-Index - 28
eISSN - 1473-5717
pISSN - 0962-8827
DOI - 10.1097/mcd.0000000000000428
Subject(s) - nonsense mutation , medicine , proband , genetics , mutation , missense mutation , biology , gene