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

被引：0

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;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

页码：4135 / 4140

页数：5

共 25 条

[1] Autosomal recessive cutis laxa type 1C with a homozygous LTBP4 splicing variant: a case report and update of literature
Mazaheri, Mahta
Jahantigh, Hamid Reza
Yavari, Mahdie
Mirjalili, Seyed Reza
Vahidnezhad, Hassan
MOLECULAR BIOLOGY REPORTS, 2022, 49 (05) : 4135 - 4140
[2] A NOVEL CASE OF AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1C: CASE REPORT AND LITERATURE REVIEW
Melo, Mafalda S.
Ferreira, Susana L.
Nunes, Sofia
Sacras, Maria
Abreu, Fatima
Rito, Tiago
Almeida, Salome
Kay, Teresa
Antunes, Diana
MEDICINE, 2021, 100 (04)
[3] Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review
Ritelli, Marco
Cammarata-Scalisi, Francisco
Cinquina, Valeria
Colombi, Marina
MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (07):
[4] Modeling autosomal recessive cutis laxa type 1C in mice reveals distinct functions for Ltbp-4 isoforms
Bultmann-Mellin, Insa
Conradi, Anne
Maul, Alexandra C.
Dinger, Katharina
Wempe, Frank
Wohl, Alexander P.
Imhof, Thomas
Wunderlich, F. Thomas
Bunck, Alexander C.
Nakamura, Tomoyuki
Koli, Katri
Bloch, Wilhelm
Ghanem, Alexander
Heinz, Andrea
Von Melchner, Harald
Sengle, Gerhard
Sterner-Kock, Anja
DISEASE MODELS & MECHANISMS, 2015, 8 (04) : 403 - 415
[5] Identification of a Novel 19-bp Deletion Mutation in LTBP4 Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C
Gupta, Neerja
Langeh, Nitika
Sridharan, Aparajit
Kabra, Madhulika
JOURNAL OF PEDIATRIC GENETICS, 2020, 9 (02) : 125 - 131
[6] First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C
Ravel, Jean-Marie
Comel, Margot
Wandzel, Marion
Bronner, Myriam
Tatopoulos, Aurelie
Renaud, Mathilde
Lambert, Laetitia
Bursztejn, Anne-Claire
Bonnet, Celine
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (11) : 3343 - 3349
[7] Identification a novel mutation of LTBP4 gene in a patient with congenital cutis laxa: a case report
Mazaheri, M.
Yavari, M.
Mirjalili, R.
Razavi, A.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 827 - 827
[8] Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature
Lugli, Licia
Cavalleri, Francesca
Bertucci, Emma
Fischer-Zirnsak, Bjorn
Cinelli, Giulia
Trevisani, Viola
Rossi, Cecilia
Riva, Marika
Iughetti, Lorenzo
Berardi, Alberto
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2022, 65 (09)
[9] Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature
Qiang Zhang
Zailong Qin
Shang Yi
Hao Wei
Xun Zhao Zhou
Jiasun Su
BMC Medical Genomics, 13
[10] Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature
Zhang, Qiang
Qin, Zailong
Yi, Shang
Wei, Hao
Zhou, Xun Zhao
Su, Jiasun
BMC MEDICAL GENOMICS, 2020, 13 (01)

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