Open AccessWhole Exome Sequencing Identifies a Homozygous PYCR1 Missense Variant in a Patient with Autosomal Recessive Cutis Laxa Type 2B: A Case Report
Author(s) -
Ali Nikfar,
Mojdeh Mansouri,
Gita Fatemi Abhari
Publication year - 2019
Publication title -
journal of comprehensive pediatrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.154
H-Index - 8
eISSN - 2251-8177
pISSN - 2251-8150
DOI - 10.5812/compreped.86392
Subject(s) - cutis laxa , missense mutation , exome sequencing , sanger sequencing , genetics , medicine , compound heterozygosity , exome , mutation , bioinformatics , gene , biology