Open AccessCole–Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl
Author(s) -
Lixue Ouyang,
Fan Yang
Publication year - 2017
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000009504
Subject(s) - medicine , exon , trigonocephaly , craniosynostosis , mutation , genetics , gene , anatomy , biology