Autosomal recessive cutis laxa type 1C with a homozygous LTBP4 splicing variant: a case report and update of literature

被引：0
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作者：
Mahta Mazaheri
Hamid Reza Jahantigh
Mahdie Yavari
Seyed Reza Mirjalili
Hassan Vahidnezhad
机构：
[1] Shahid Sadoughi University of Medical Sciences,Department of Medical Genetics, School of Medicine
[2] Shahid Sadoughi University of Medical Sciences,Mother and Newborn Health Research Center
[3] Dr. Mazaheri’s Medical Genetics Lab,Department of Veterinary Medicine
[4] University of Bari Aldo Moro,Interdisciplinary Department of Medicine
[5] University of Bari, Section of Occupational Medicine
[6] Sidney Kimmel Medical College at Thomas Jefferson University,Department of Dermatology and Cutaneous Biology
[7] Thomas Jefferson University,Jefferson Institute of Molecular Medicine
来源：
Molecular Biology Reports | 2022年 / 49卷
关键词：
Autosomal recessive cutis laxa; Whole-exome sequencing; LTBP4; Homozygous mutation;
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页码：4135 / 4140
页数：5
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