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-Reference-Cited by-同舟云学术

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

Published:2019-05-21 Issue:7 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Ritelli Marco¹,Cammarata‐Scalisi Francisco²,Cinquina Valeria¹,Colombi Marina¹^ORCID

Affiliation:

1. Division of Biology and Genetics, Department of Molecular and Translational Medicine University of Brescia Brescia Italy

2. Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine University of the Andes Mérida Venezuela

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.735

Reference36 articles.

1. Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

2. Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2

3. RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome

4. Cutis laxa: A review

5. Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

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1. Multi‐organ phenotypes in mice lacking latent TGFβ binding protein 2 (LTBP2);Developmental Dynamics;2023-09-09

2. Genetics of Diaphragmatic Hernia;Encyclopedia of Life Sciences;2023-06-08

3. 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;American Journal of Medical Genetics Part A;2022-08-16

4. Autosomal recessive cutis laxa type 1C with a homozygous LTBP4 splicing variant: a case report and update of literature;Molecular Biology Reports;2022-04-20

5. Underlying genetic etiologies of congenital diaphragmatic hernia;Prenatal Diagnosis;2022-01-22