Cover Image

Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture's syndrome by whole exome sequencing

Kabuki syndrome (KS) is a rare genetic disorder characterized by dysmorphic facial features, skeletal abnormalities, and intellectual disability. KMT2D and KDM6A were identified as the main causative genes. To our knowledge, there exist no cases of KS, which were reported with pneumorrhagia. In this...

Full description

Saved in:

Bibliographic Details
Main Authors:	Shuolin Li (Author), Jing Liu (Author), Yuan Yuan (Author), Aizhen Lu (Author), Fang Liu (Author), Li Sun (Author), Quanli Shen (Author), Libo Wang (Author)
Format:	Book
Published:	Frontiers Media S.A., 2022-08-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome
by: Shao-Wen Wu, et al.
Published: (2021)

Case report of kabuki syndrome in a newborn caused by KMT2D gene mutation
by: Xuejiao Ba, et al.
Published: (2024)

A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report
by: Jung-Eun Moon, et al.
Published: (2018)

Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review
by: Chengqi Xin, et al.
Published: (2018)

Case Report: De novo Variants of KMT2E Cause O'Donnell-Luria-Rodan Syndrome: Additional Cases and Literature Review
by: Yang Li, et al.
Published: (2021)

Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report
by: Xianqing Li, et al.
Published: (2020)

Single-Cell Transcriptome Analysis Defines Expression of Kabuki Syndrome-Associated KMT2D Targets and Interacting Partners
by: Badam Enkhmandakh, et al.
Published: (2022)

Bohring-Opitz syndrome: Unraveling neonatal hypoglycemia and early detection through whole exome sequencing
by: Ching-Ming Lin, et al.
Published: (2024)

Whole Exome Sequencing Revealed Variants That Predict Pulmonary Artery Involvement in Patients with Takayasu Arteritis
by: Liu L, et al.
Published: (2022)

Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia
by: Dafeng Lin, et al.
Published: (2023)

Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families
by: Tawfiq Froukh, et al.
Published: (2020)

Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation
by: Ettore Piro, et al.
Published: (2020)

Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome
by: Yue Shen, et al.
Published: (2020)

KABUKI SYNDROME
by: Doina Maria Ioan, et al.
Published: (2008)

Resolving inherited and de novo germline predisposing sequence variants by means of whole exome trio analyses in childhood hematological malignancies
by: Triantafyllia Brozou, et al.
Published: (2023)

Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome.
by: Victor Borda, et al.
Published: (2021)

mutations in identified by whole exome sequencing in 2 girls with Alport syndrome in Korea
by: Kyoung Hee Han, et al.
Published: (2019)

Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report
by: Wei Guo, et al.
Published: (2020)

Whole-exome sequencing analysis identifies novel variants associated with Kawasaki disease susceptibility
by: Xing Zhang, et al.
Published: (2023)

Identification of Novel Gene variants in Patients with Alzheimer's Disease by Whole Exome Sequencing
by: Xiaodong Pan, et al.
Published: (2020)

Whole exome sequencing detects novel variants in Saudi children diagnosed with eczema
by: Neda M. Bogari, et al.
Published: (2020)

Identification of potential causal variants for premature ovarian failure by whole exome sequencing
by: Haengun Jin, et al.
Published: (2020)

Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing
by: Erfan Kohansal, et al.
Published: (2024)

Whole‐exome sequencing reveals two de novo variants in the RBM20 gene in two Chinese patients with left ventricular non‐compaction cardiomyopathy
by: Qiqing Sun, et al.
Published: (2020)

Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation
by: Leander D. Timothy, et al.
Published: (2019)

Clinic morphological features of Goodpasture's syndrome manifested with respiratory disorders
by: Yu. M. Mostovoy, et al.
Published: (2018)

Recognition of Kabuki Syndrome
by: Rita Justo Pereira, et al.
Published: (2023)

Detection of de novo genetic variants in Mayer-Rokitansky-Küster-Hauser syndrome by whole genome sequencing
by: Hong-xin Pan, et al.
Published: (2019)

Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype
by: Fonseca DJ, et al.
Published: (2021)

A novel missense variant in LAMC1 identified in a POI family by whole exome sequencing
by: Huanfang Xu, et al.
Published: (2023)

Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of <i>CTTNBP2</i> in a Quad Family Affected by Autism Spectrum Disorder
by: Yingmei Xie, et al.
Published: (2022)

Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report
by: Dan Sun, et al.
Published: (2020)

Goodpasture\'s syndrome in pregnancy without renal involvement: A case report
by: Taghi Riahi, et al.
Published: (2022)

A Case of Mitochondrial Trifunctional Protein Deficiency with Variants Diagnosed Using Whole-Exome Sequencing
by: Chan Kim, et al.
Published: (2021)

Prenatal diagnosis of Roberts syndrome in a Chinese family based on ultrasound findings and whole exome sequencing: a case report
by: LiFen Zhu, et al.
Published: (2022)

Whole exome sequencing revealed a novel homozygous variant in the DGKE catalytic domain: a case report of familial hemolytic uremic syndrome
by: Soraya Gholizad-kolveiri, et al.
Published: (2020)

Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing
by: Hu X, et al.
Published: (2021)

Exome sequencing reveals biallelic inactivation of KMT2C in cutaneous apocrine carcinoma: A case report and review of the literature
by: Yui Hirano-Lotman, MD, et al.
Published: (2024)

Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report
by: Amna Iftikhar, et al.
Published: (2024)

Whole Exome Sequencing of Chronic Myeloid Leukemia Patients
by: Shaghayegh SABRI, et al.
Published: (2016)