Cargando…

Case Report: Whole Exome Sequencing Revealed Two Novel Mutations of PIEZO1 Implicated in Nonimmune Hydrops Fetalis

Nonimmune hydrops fetalis (NIHF) is a serious and complex fetal condition. Prenatal diagnosis of hydrops fetalis is not difficult by ultrasound. However, determining the underlying etiology of NIHF remains a challenge which is essential to address for prenatal counseling. We extracted DNA from a pro...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chen, Yuan, Jiang, Ying, Chen, Bangwu, Qian, Yeqing, Liu, Jiao, Yang, Mengmeng, Zhao, Baihui, Luo, Qiong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8375471/ https://www.ncbi.nlm.nih.gov/pubmed/34421994 http://dx.doi.org/10.3389/fgene.2021.684555

Ejemplares similares

Thoracic Ganglioneuromas Resulting in Nonimmune Hydrops Fetalis
por: Singh, Paul, et al.
Publicado: (2014)

Nonimmune hydrops fetalis secondary to aneurysm of the vein of Galen
por: Attuveppil, Vijayalakshmy Raman, et al.
Publicado: (2008)

Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis
por: Hannah, Dawn M., et al.
Publicado: (2017)

Etiology and Perinatal Outcome of Nonimmune Hydrops Fetalis in Southern China
por: He, Sheng, et al.
Publicado: (2017)

A Systematic Review of Monogenic Etiologies of Nonimmune Hydrops Fetalis
por: Quinn, Andrea M., et al.
Publicado: (2020)

A Case of Nonimmune Hydrops Fetalis Caused by Homozygous α-Thalassemia
por: Akar, Melek, et al.
Publicado: (2013)

Complete Resolution of Nonimmune Hydrops Fetalis Secondary to Maternal Syphilis Infection
por: Dinicu, Andreea, et al.
Publicado: (2023)

hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia
por: Mackie, Duncan I., et al.
Publicado: (2018)

Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene
por: MOSALLANEJAD, Asieh, et al.
Publicado: (2020)

Nonimmune Hydrops Fetalis—Prenatal Diagnosis, Genetic Investigation, Outcomes and Literature Review
por: Kosinski, Przemyslaw, et al.
Publicado: (2020)

Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis
por: Zhou, Xinyao, et al.
Publicado: (2021)

Spontaneous resolution of nonimmune hydrops fetalis in a fetus with TP63 gene mutation and LZTR1 gene variants
por: Hurni, Yannick, et al.
Publicado: (2021)

A Novel Homozygous Missense Mutation of PIEZO1 Leading to Lymphatic Malformation-6 Identified in a Family With Three Adverse Pregnancy Outcomes due to Nonimmune Fetal Hydrops
por: Han, Shuai, et al.
Publicado: (2022)

Congenital Gastric Outlet Obstruction and Nonimmune Hydrops Fetalis: A Prenatal Sonographic Diagnosis of a Case with Hydrothorax and Ascites
por: Abdulkadir, A. Yisau, et al.
Publicado: (2008)

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis
por: Fotiou, Elisavet, et al.
Publicado: (2015)

Survival of Hydrops Fetalis with and without Fetal Intervention
por: Huang, Yu-Yun, et al.
Publicado: (2022)

Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis
por: Fotiou, Elisavet, et al.
Publicado: (2019)

Meconium Peritonitis Presenting with Nonimmune Hydrops and Mirror Syndrome
por: Mishra, Purbasha, et al.
Publicado: (2022)

Coronary Arteriovenous Fistula Causing Hydrops Fetalis
por: Çetiner, Nilüfer, et al.
Publicado: (2014)

Familial Hemophagocytic Lymphohistiocytosis Presenting as Hydrops Fetalis
por: Iwatani, Sota, et al.
Publicado: (2015)

Newborn with Nonimmune Hydrops Secondary to Fetal COVID-19 Myocarditis
por: Gubbari, Chintan, et al.
Publicado: (2021)

The Emerging Pattern Of Hydrops Fetalis - Incidence, aetiology and management
por: Trainor, B, et al.
Publicado: (2006)

Perinatal-lethal Gaucher disease presenting as hydrops fetalis
por: BenHamida, Emira, et al.
Publicado: (2015)

Thymic teratoma presenting as non-immune hydrops fetalis
por: Hamza, Ameer, et al.
Publicado: (2018)

Non-immune hydrops fetalis: Two case reports
por: Maranto, Marianna, et al.
Publicado: (2021)

Clinical Profile and Predictors of Mortality in Neonates Born With Non-Immune Hydrops Fetalis: Experience From a Lower-Middle-Income Country
por: Hasija, Vinod K, et al.
Publicado: (2021)

Perinatal management of enlarged bronchogenic cyst causing hydrops fetalis
por: Arnaoutoglou, Christos, et al.
Publicado: (2021)

Fetal Intervention for Refractory Supraventricular Tachycardia Complicated by Hydrops Fetalis
por: Munoz, Jessian L., et al.
Publicado: (2022)

EPHB4 kinase–inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis
por: Martin-Almedina, Silvia, et al.
Publicado: (2016)

Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia
por: Wlodarski, Marcin W., et al.
Publicado: (2018)

Homozygosity for the Mediterranean α-thalassemic deletion (hemoglobin Barts hydrops fetalis)
por: Al-Allawi, Nasir A. S., et al.
Publicado: (2010)

Infantile onset Pompe disease presenting with non-immune hydrops fetalis
por: Lee, Kristen, et al.
Publicado: (2019)

Successful medical treatment of fetal supraventricular tachycardia that cause hydrops fetalis
por: Çetin, Cihan, et al.
Publicado: (2014)

Resuscitation with Intact Placental Circulation in a Preterm Infant with Hydrops Fetalis
por: Pratesi, Simone, et al.
Publicado: (2017)

A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing
por: Sun, Yixi, et al.
Publicado: (2019)

Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure
por: Dash, Camille A., et al.
Publicado: (2023)

Etiology and Outcome of non-immune Hydrops Fetalis in Southern China: report of 1004 cases
por: Meng, Dahua, et al.
Publicado: (2019)

Placental Chorioangioma as the Cause of Non-Immunologic Hydrops Fetalis; a Case Report
por: Duro, Eduardo Alfredo, et al.
Publicado: (2011)

Mediastinal teratoma with hydrops fetalis in a newborn and development of chronic respiratory insufficiency
por: Simoncic, Milanka, et al.
Publicado: (2014)

Mesalazine as a cause of fetal anemia and hydrops fetalis: A case report
por: Ek, Sverker, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_5q85q0en41knn8lsnv1mcg27de