Cargando…

Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the KIAA0825 Gene in a Fetus with Postaxial Polydactyly Type A

Postaxial polydactyly (PAP) is a common abnormality characterized by extra digits on hands and/or feet. To date, sequence variants in seven genes have been identified in non-syndromic PAP. In the present study, a fetus manifesting non-syndromic postaxial polydactyly type A (PAPA) was found by fetal...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yao, Yanyi, Deng, Shan, Zhu, Feng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9316509/ https://www.ncbi.nlm.nih.gov/pubmed/35886013 http://dx.doi.org/10.3390/genes13071230

Ejemplares similares

Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly
por: Ahmad, Safeer, et al.
Publicado: (2023)

Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO)
por: Fan, Lihong, et al.
Publicado: (2022)

Review of Literature: Genes Related to Postaxial Polydactyly
por: Verma, Prashant Kumar, et al.
Publicado: (2015)

Current Treatment and Billing Trends of Postaxial Polydactyly Type B
por: Graham, Emily M., et al.
Publicado: (2022)

New Notations for Better Morphological Distinction of Postaxial Polydactyly of the Foot
por: Hirota, Yuka, et al.
Publicado: (2022)

Hydrometrocolpos and postaxial polydactyly in a girl newborn: A case report
por: Day, Morgan L., et al.
Publicado: (2022)

Analysis of Congenital Postaxial Polydactyly of the Foot Using Magnetic Resonance Imagings
por: Choi, Jun Young
Publicado: (2019)

Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly
por: Lodder, Elisabeth M., et al.
Publicado: (2009)

Management of postaxial polydactyly by “Ksharsutra”: A minimally invasive Ayurvedic parasurgical procedure
por: Dwivedi, Amarprakash P.
Publicado: (2013)

Coexistence of Left Internal Carotid Agenesis, Klippel-Feil Syndrome and Postaxial Polydactyly
por: Ruzic-Barsic, Antonija, et al.
Publicado: (2015)

Compound heterozygous splicing variants in KIAA0586 cause fetal short‐rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis
por: Zhao, Qianying, et al.
Publicado: (2022)

Prenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report
por: Xue, Jiaxin, et al.
Publicado: (2022)

Structural Evaluation and Conformational Dynamics of ZNF141(T474I) Mutation Provoking Postaxial Polydactyly Type A
por: Ali, Yasir, et al.
Publicado: (2022)

Unusual Presentation of Familial Unilateral Postaxial Polydactyly With Metacarpal Delta Phalanx: A Report of a Rare Case
por: Alelyani, Rakan H, et al.
Publicado: (2023)

Prenatal diagnosis identifies compound heterozygous variants in RYR1 that causes ultrasound abnormalities in a fetus
por: Zhao, Qiuling, et al.
Publicado: (2022)

Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly
por: Umair, Muhammad, et al.
Publicado: (2019)

A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex
por: Volodarsky, Michael, et al.
Publicado: (2014)

Treatment of postaxial polydactyly with plantar plate and medial collateral ligament reconstruction after supernumerary excision: A case report
por: Escudero, Mario I, et al.
Publicado: (2017)

An atypical case of Klippel-Trénaunay syndrome presenting with crossed-bilateral limb hypertrophy and postaxial polydactyly: a case report
por: Al-Najjar, Rawan M., et al.
Publicado: (2019)

Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report
por: Liu, Jiao, et al.
Publicado: (2021)

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium
por: Jespersgaard, Cathrine, et al.
Publicado: (2020)

Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China
por: Yan, Lulu, et al.
Publicado: (2023)

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families
por: Fang, Yuying, et al.
Publicado: (2023)

Prenatal Diagnosis of a Congenital Postaxial Longitudinal Limb Defect: A Case Report
por: Pauleta, Joana, et al.
Publicado: (2010)

The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review
por: Cocciadiferro, Dario, et al.
Publicado: (2020)

Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis
por: Cheng, Chen, et al.
Publicado: (2022)

Identification of Novel Compound Heterozygous Variants of MMP9 in Fetus With Metaphyseal Anadysplasia Type 2
por: Cheng, Lin, et al.
Publicado: (2022)

Orodental findings in postaxial acrofacial dysostosis
por: Urs, Aadithya B, et al.
Publicado: (2014)

Sparing the Fifth Toe in Postaxial Polysyndactyly of the Foot
por: Woo, Soo Jin, et al.
Publicado: (2020)

Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome
por: Katagiri, Satoshi, et al.
Publicado: (2018)

WCN23-0825 TELENEPHROLOGY: MANAGING CHRONIC KIDNEY DISEASE DURING COVID-19 PANDEMIC
por: Sharma, S.K., et al.
Publicado: (2023)

Whole‐exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome
por: Yang, Kai, et al.
Publicado: (2019)

Retinitis Pigmentosa and Polydactyly in a Patient with a Heterozygous Mutation on the BBS1 Gene
por: Guardiola, Gabriel, et al.
Publicado: (2021)

Prenatal diagnosis and outcomes in 320 fetuses with nasal bone anomalies
por: Li, Hui, et al.
Publicado: (2023)

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)

Case Report: Prenatal Whole-Exome Sequencing to Identify a Novel Heterozygous Synonymous Variant in NIPBL in a Fetus With Cornelia de Lange Syndrome
por: Qiao, Fengchang, et al.
Publicado: (2021)

Germline polymorphisms in MGMT associated with temozolomide-related myelotoxicity risk in patients with glioblastoma treated on NRG Oncology/RTOG 0825
por: Scheurer, Michael E, et al.
Publicado: (2022)

Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report
por: Rajabi, Fatemeh, et al.
Publicado: (2022)

The transformation suppressor gene Reck is required for postaxial patterning in mouse forelimbs
por: Yamamoto, Mako, et al.
Publicado: (2012)

CompoundHetVIP: Compound Heterozygous Variant Identification Pipeline
por: Miller, Dustin B., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_71461bg19lb4eb3cl1vn4na62u