Cargando…

Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO)

Postaxial polydactyly is a common congenital malformation which involves complex genetic factors. This retrospective study analyzed the cytogenetic and molecular results of a Chinese fetus diagnosed with postaxial polydactyly of all four limbs. Fetal karyotyping and chromosomal microarray analysis (...

Descripción completa

Detalles Bibliográficos
Autores principales:	Fan, Lihong, Jin, Pengzhen, Qian, Yeqing, Shen, Guosong, Shen, Xueping, Dong, Minyue
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9257524/ https://www.ncbi.nlm.nih.gov/pubmed/35812756 http://dx.doi.org/10.3389/fgene.2022.887082

Ejemplares similares

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

Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors
por: Shen, Xueping, et al.
Publicado: (2023)

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

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)

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 Detection of Novel Compound Heterozygous Splice Site Variants of the KIAA0825 Gene in a Fetus with Postaxial Polydactyly Type A
por: Yao, Yanyi, et al.
Publicado: (2022)

Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing
por: Yu, Jialing, et al.
Publicado: (2022)

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)

Clinical Efficiency of Non-invasive Prenatal Screening for Common Trisomies in Low-Risk and Twin Pregnancies
por: Xu, Yanfei, et al.
Publicado: (2021)

Case report: Prenatal diagnosis of fetal intracranial hemorrhage due to compound mutations in the JAM3 gene
por: Xu, Min, et al.
Publicado: (2022)

Genetic and Epigenetic Regulation of the Smoothened Gene (SMO) in Cancer Cells
por: Lou, Hong, et al.
Publicado: (2020)

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)

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: Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction
por: Jin, Pengzhen, et al.
Publicado: (2021)

Case Report: A Synonymous Mutation in NF1 Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping
por: Jin, Pengzhen, et al.
Publicado: (2021)

Development of a Patient-Reported Outcome Measure (PROM) for Dysgeusia During Treatment With Smoothened (SMO) Inhibitors for Basal Cell Carcinomas: The SMO-iD Questionnaire
por: Camela, Elisa, et al.
Publicado: (2023)

Clinical Genetics of Polydactyly: An Updated Review
por: Umair, Muhammad, et al.
Publicado: (2018)

A Novel Mutation c.3392G>T of COL2A1 Causes Spondyloepiphyseal Dysplasia Congenital by Affecting Pre-mRNA Splicing
por: Fan, Lihong, et al.
Publicado: (2022)

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)

Patched Homolog 1 (PTCH1) Mutation in a CIC-Rearranged Sarcoma: Lack of Response to the Smoothened (SMO) Vismodegib
por: Wu, David J, et al.
Publicado: (2023)

Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene
por: Chen, Min, et al.
Publicado: (2022)

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

A Rare Combination of Heptadactyl and Hexadactyl Polydactyly in a Neonate
por: Mujalda, Jagdish, et al.
Publicado: (2023)

Novel Bi-Allelic Variants of FANCM Cause Sertoli Cell-Only Syndrome and Non-Obstructive Azoospermia
por: Zhang, Yuxiang, et al.
Publicado: (2021)

Hydrometrocolpos and Post-axial Polydactyly Complicated With Acute Intestinal Obstruction and Hydroureteronephrosis
por: Arriola-Montenegro, Liliana, et al.
Publicado: (2021)

The cation-π interaction in cysteine-rich domain of Smoothened is critical for its cholesterylation and function: The cation-π interaction is required for SMO cholesterylation
por: Kong, Zekai, et al.
Publicado: (2022)

A Novel Nonsense GLI3 Variant Is Associated With Polydactyly and Syndactyly in a Family by Blocking the Sonic Hedgehog Signaling Pathway
por: Xiang, Ying, et al.
Publicado: (2020)

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

Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
por: Al Hawsawi, Khalid, et al.
Publicado: (2022)

Case Report: Novel splicing mutations in RFX5 causing MHC class II deficiency
por: Chen, Shan, et al.
Publicado: (2022)

Fetal Cyclopia, Proboscis, Holoprosencephaly, and Polydactyly: A Case Report With Review of Literature
por: Kollu, Raja, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_6n0nms7dpjn3v068uugqq7uu7p