Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability-Reference-Cited by-同舟云学术

Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability

Published:2020-09-09 Issue:11 Volume:182 Page:2773-2777
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Chacon‐Camacho Oscar F.¹²^ORCID,Arce‐Gonzalez Rocio¹,Ordaz‐Robles Thania¹,Perezpeña‐Diazconti Mario³,Nava‐Castañeda Angel⁴,Zenteno Juan Carlos¹⁵^ORCID

Affiliation:

1. Department of Genetics Institute of Ophthalmology “Conde de Valenciana” Mexico City Mexico

2. Faculty of Superior Studies‐Iztacala, Department of Genetics and Molecular Biology, School of Medicine Universidad Nacional Autónoma de México Tlalnepantla Estado de Mexico Mexico

3. Department of Pathology Institute of Ophthalmology “Conde de Valenciana” Mexico City Mexico

4. Department of Orbit and Oculoplastics Institute of Ophthalmology “Conde de Valenciana” Mexico City Mexico

5. Faculty of Medicine, Department of Biochemistry Universidad Nacional Autónoma de México Mexico City Mexico

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61849

Reference20 articles.

1. Hereditary mucoepithelial dysplasia: clinical, ultrastructural and genetic study of eight patients and literature review

2. Methylation‐mediated deamination of 5‐methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides;Cooper D. N.;Human Genetics,2010

3. A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene

4. Hereditary mucoepithelial dysplasia and severe respiratory distress

5. Hereditary Mucoepithelial Dysplasia: Report of Two Sporadic Cases

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Ichthyosis Follicularis, Atrichia, and Photophobia (IFAP) Syndrome, Type 2: Clinical Case;Current Pediatrics;2024-07-12

2. Endoplasmic reticulum tethering by desmosomes;Nature Cell Biology;2023-06

3. Hereditary Mucoepithelial Dysplasia;Genetic Syndromes;2023

4. First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations;Molecular Syndromology;2022-12-16

5. AUTOSOMAL DOMINANT MÜLLER CELL SHEEN DYSTROPHY;Retina;2022-05