Cargando…

Hereditary coagulation factor VII deficiency caused by novel compound heterozygous mutations in a Chinese pedigree: A case report

BACKGROUND: Congenital coagulation factor VII (FVII) deficiency is a rare, autosomal‐recessive haemorrhagic disorder with an estimated incidence of 1:500,000. This disorder is caused by mutations in the F7 gene. CASE DESCRIPTION: Here, we report a pedigree of congenital FVII deficiency. The proband...

Descripción completa

Detalles Bibliográficos
Autores principales:	Cai, Ruimin, Li, Yi, Xu, Wei, Gao, Xue, Feng, Qiang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9833959/ https://www.ncbi.nlm.nih.gov/pubmed/36572978 http://dx.doi.org/10.1002/jcla.24768

Ejemplares similares

PB2660: HEREDITARY COAGULATION FACTOR FVII DEFICIENCY CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS
por: Zhou, Rongfu, et al.
Publicado: (2023)

Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees
por: Yang, Bin, et al.
Publicado: (2018)

Novel factor VII gene mutations in six families with hereditary coagulation factor VII deficiency
por: Zhang, Xiaoyu, et al.
Publicado: (2021)

Characterization of a Missense Mutation in the Catalytic Domain and a Splicing Mutation of Coagulation Factor X Compound Heterozygous in a Chinese Pedigree
por: Feng, Yuanzheng, et al.
Publicado: (2021)

Novel heterozygous BPIFC variant in a Chinese pedigree with hereditary trichilemmal cysts
por: Fu, Xian‐Guo, et al.
Publicado: (2019)

Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease
por: Zhang, Jianping, et al.
Publicado: (2016)

Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21-hydroxylase deficiency in a Chinese pedigree
por: Liu, Jia, et al.
Publicado: (2018)

Acquired deficiency of coagulation factor VII
por: da Silva, Vanessa Afonso, et al.
Publicado: (2015)

Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree
por: Zhou, Yong‐An, et al.
Publicado: (2019)

Functional Characterization of a Novel Heterozygous Mutation in the Glucokinase Gene That Causes MODY2 in Chinese Pedigrees
por: Jiang, Feng, et al.
Publicado: (2021)

A novel fibrinogen variant in a Chinese pedigree with congenital dysfibrinogenemia caused by FGA P. Arg38Thr mutation: A case report
por: Cai, Ruimin, et al.
Publicado: (2018)

Novel compound heterozygous mutations in the PARK2 gene identified in a Chinese pedigree with early‐onset Parkinson's disease
por: Shi, Yingying, et al.
Publicado: (2017)

Hereditary Thrombotic Thrombocytopenic Purpura in a Chinese Boy With a Novel Compound Heterozygous Mutation of the ADAMTS13 Gene
por: Dai, Yi-ling, et al.
Publicado: (2020)

Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees
por: Kamphans, Tom, et al.
Publicado: (2013)

A report of a pedigree with compound heterozygous mutations in the SLC22A5 gene
por: Zhou, Yunguo, et al.
Publicado: (2023)

Compound heterozygous variants in POR gene identified by whole‐exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency
por: Hao, Chanjuan, et al.
Publicado: (2018)

Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis Pigmentosa
por: Wang, Yun, et al.
Publicado: (2012)

Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree
por: Wei, Chunli, et al.
Publicado: (2020)

Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations
por: Zhang, Jian-hui, et al.
Publicado: (2021)

Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family
por: Jin, Jie-Yuan, et al.
Publicado: (2020)

Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis
por: Ma, Shiyue, et al.
Publicado: (2018)

Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases: Genetic, Clinical, and Pathologic Findings From 3 Chinese Pedigrees
por: Yao, Tingyan, et al.
Publicado: (2022)

A Rare Heterozygous TINF2 Deletional Frameshift Mutation in a Chinese Pedigree With a Spectrum of TBDs Phenotypes
por: Ren, Hai-Long, et al.
Publicado: (2022)

Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family
por: Wang, Rongrong, et al.
Publicado: (2019)

Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome
por: Ling, Chao, et al.
Publicado: (2018)

Novel mutation in coagulation factor VII (Carmel mutation): Identification and characterization
por: Cassel, Aliza, et al.
Publicado: (2021)

Mutations of TFPI-binding exosites on factor VII cause bleeding phenotypes in factor VII deficiency
por: Seanoon, Karnsasin, et al.
Publicado: (2022)

Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family
por: Gong, Bo, et al.
Publicado: (2015)

A Pedigree Report of a Rare Case of Weill–Marchesani Syndrome with New Compound Heterozygous LTBP2 Mutations
por: Lin, ZhiHong, et al.
Publicado: (2021)

Molecular Characterization of Iranian Patients with Inherited Coagulation Factor VII Deficiency
por: Shahbazi, S, et al.
Publicado: (2017)

Familial hemophagocytic lymphohistiocytosis type 5 in a Chinese Tibetan patient caused by a novel compound heterozygous mutation in STXBP2
por: Tang, Xue, et al.
Publicado: (2019)

MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM
por: Nohara, Fumikatsu, et al.
Publicado: (2022)

Compound Heterozygous Variants of the CPAMD8 Gene Co-Segregating in Two Chinese Pedigrees With Pigment Dispersion Syndrome/Pigmentary Glaucoma
por: Tan, Junkai, et al.
Publicado: (2022)

Coexistence of Factor VII Deficiency and Hereditary Spastic Paraplegia in Two Siblings
por: De la Corte-Rodriguez, Hortensia, et al.
Publicado: (2016)

Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency
por: Lu, Yitong, et al.
Publicado: (2022)

Hereditary Neuroses in Children.—VII
Publicado: (1897)

Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs-negative hemolytic jaundice
por: Wang, Xiong, et al.
Publicado: (2019)

KRIT1 mutations in three Japanese pedigrees with hereditary cavernous malformation
por: Hirota, Kengo, et al.
Publicado: (2016)

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report
por: Zhang, Xiaoqian, et al.
Publicado: (2018)

Primary microcephaly caused by novel compound heterozygous mutations in ASPM
por: Okamoto, Nobuhiko, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_7ipkm8k2augt05f7a5op7vht6l