Cargando…

Importance of early detection of juvenile polyposis syndrome: A case report and literature review

RATIONALE: Juvenile polyposis syndrome (JPS) is a rare genetic gastrointestinal disorder with hidden and variable clinical features. Early detection is crucial for good prognosis. PATIENT CONCERNS: A 20-year-old female went to hospital for fever, and was unexpectedly diagnosed as JPS during treatmen...

Descripción completa

Detalles Bibliográficos
Autores principales:	Shen, Na, Wang, Xiong, Lu, Yanjun, Xiao, Fang, Xiao, Juan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2020
Materias:	3500
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7738017/ https://www.ncbi.nlm.nih.gov/pubmed/33327285 http://dx.doi.org/10.1097/MD.0000000000023494

Ejemplares similares

Hereditary pancreatitis of 3 Chinese children: Case report and literature review
por: Dai, Li-Na, et al.
Publicado: (2016)

Prenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature review
por: Lv, Xin, et al.
Publicado: (2023)

Phenotypic spectrum and genetic analysis in the fatal cases of Schaaf-Yang syndrome: Two case reports and literature review
por: Chen, Xuefei, et al.
Publicado: (2020)

Prenatal detection of a 3q29 microdeletion in a fetus with ventricular septum defect: A case report and literature review
por: Yue, Fagui, et al.
Publicado: (2021)

NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature
por: Shi, Chuan, et al.
Publicado: (2016)

Prenatal detection of distal 1q21.1q21.2 microduplication with abnormal ultrasound findings: Two cases report and literature review
por: Zhang, Hongguo, et al.
Publicado: (2021)

Role of surfactant protein C in neonatal genetic disorders of the surfactant system: A case report
por: Tan, Ya-Xin, et al.
Publicado: (2021)

Molecular characterization of small supernumerary marker chromosomes derived from chromosome 14/22 detected in adult women with fertility problems: Three case reports and literature review
por: Sun, Meiling, et al.
Publicado: (2020)

Thyroid hormone resistance and the value of genetics: Three case reports
por: Xiao, Xiao, et al.
Publicado: (2019)

Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report
por: Duque-Cordoba, Paola Andrea, et al.
Publicado: (2023)

Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report
por: Tang, Ping, et al.
Publicado: (2022)

Case report of a Li–Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2
por: Zhuang, Xuehan, et al.
Publicado: (2016)

Clinical feature and genetic mutation of KBG syndrome diagnosed in neonatal period: A case report
por: Zhang, HaoZheng, et al.
Publicado: (2023)

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)

Phenotypic spectrum and mechanism analysis of Schaff Yang syndrome: A case report on new mutation of MAGEL2 gene
por: Duan, Yanjie, et al.
Publicado: (2021)

Neurological Manifestations in Parry–Romberg Syndrome: 2 Case Reports
por: Vix, Justine, et al.
Publicado: (2015)

Are parents of children with Cockayne syndrome manifesting features of the disorder?: Case reports
por: Al Kaissi, Ali, et al.
Publicado: (2017)

A novel compound heterozygous COL4A4 mutation in a Chinese family with Alport syndrome: A care case report
por: Chen, Ji-Yu, et al.
Publicado: (2021)

The genotype and phenotype of chromosome 18p deletion syndrome: Case series
por: Jin, Qiujie, et al.
Publicado: (2021)

Novel heterozygous mutation in the SHOX gene leading to familial idiopathic short stature: A case report and literature review
por: Liu, Lifang, et al.
Publicado: (2023)

Missed diagnosis of lissencephaly after prenatal diagnosis: A case report
por: Liu, Mengna, et al.
Publicado: (2023)

A boy with 13.34-Mb interstitial deletion of chromosome 4p15: A new case report and review of the literature
por: Mitroi, Anca Florentina, et al.
Publicado: (2017)

Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review
por: Zhang, Zhaorui, et al.
Publicado: (2022)

A novel FGFR2 (S137W) mutation resulting in Apert syndrome: A case report
por: Shi, Qingyang, et al.
Publicado: (2020)

Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report
por: Jinxiu, Liu, et al.
Publicado: (2020)

Association between CYP2B6 c.516G >T variant and acute leukaemia: A protocol for systematic review and meta-analysis
por: Xiong, Xuan, et al.
Publicado: (2021)

Clinical assessment and FGFR2 mutation analysis in a Chinese family with Crouzon syndrome: A case report
por: Shi, Huijun, et al.
Publicado: (2021)

Prenatal diagnosis of chromosome 18 long arm deletion syndrome by high-throughput sequencing: Two case reports
por: Bai, Xuechun, et al.
Publicado: (2021)

Transthyretin-related hereditary amyloidosis with recurrent vomiting and renal insufficiency as the initial presentation: A case report
por: Xu, Jing, et al.
Publicado: (2017)

Association Between the XRCC6 Polymorphisms and Cancer Risks: A Systematic Review and Meta-analysis
por: Jia, Jing, et al.
Publicado: (2015)

Uncovering a new SASH1 mutation associated with dyschromatosis universalis hereditaria using whole-exome-sequencing: A case report
por: Yang, Yue, et al.
Publicado: (2023)

The important role of MDM2, RPL5, and TP53 in mycophenolic acid-induced cleft lip and palate
por: Lin, Yangyang, et al.
Publicado: (2021)

Clinical and genetic analysis of 2 rare cases of Wiskott–Aldrich syndrome from Chinese minorities: Two case reports
por: Liu, Haifeng, et al.
Publicado: (2021)

Papillary thyroid carcinoma with hyperthyroidism and multiple metastases: A case report
por: Zhang, Li-li, et al.
Publicado: (2020)

C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia: A case report
por: Zhang, Yan, et al.
Publicado: (2020)

A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report
por: Xie, Dan, et al.
Publicado: (2023)

Identification of HIV-1-specific cascaded microRNA-mRNA regulatory relationships by parallel mRNA and microRNA expression profiling with AIDS patients after antiviral treatment
por: Shen, Fangyuan, et al.
Publicado: (2021)

Severe dysplasminogenemia due to homozygous PLG Ala620Thr variant in a Korean woman without a history of venous thromboembolism: A case report and literature review
por: Lee, Beomki, et al.
Publicado: (2022)

The first reported case of Beaulieu-Boycott-Innes syndrome caused by two novel mutations in THOC6 gene in a Chinese infant
por: Zhang, Qiang, et al.
Publicado: (2020)

Familial chylomicronemia syndrome due to a heterozygous deletion of the chromosome 8 treated with the apoCIII inhibitor volanesorsen: A case report
por: Tünnemann-Tarr, Adrienn, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_gb51t7feefe34bn3g1aseia1aq