Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report
Author(s) -
Haibo Li,
Aman Zhao,
Min Xie,
Linqi Chen,
Haiying Wu,
Yiping Shen,
Hongying Wang
Publication year - 2021
Publication title -
translational pediatrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.702
H-Index - 13
eISSN - 2224-4344
pISSN - 2224-4336
DOI - 10.21037/tp-21-499
Subject(s) - missense mutation , sanger sequencing , medicine , exome sequencing , genetics , exon , compound heterozygosity , exome , dna sequencing , mutation , bioinformatics , gene , biology
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom