Cargando…

Phenotypic spectrum and genetic analysis in the fatal cases of Schaaf-Yang syndrome: Two case reports and literature review

RATIONALE: Schaaf-Yang syndrome, a rare imprinted hereditary disease caused by MAGEL2 variants, manifests as developmental delay/intellectual disability, neonatal hypotonia, feeding difficulties, contractures, and autism spectrum disorder. PATIENT CONCERNS: Patient 1 and 2 were infant girls presenti...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chen, Xuefei, Ma, Xiaolu, Zou, Chaochun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2020
Materias:	3500
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7373511/ https://www.ncbi.nlm.nih.gov/pubmed/32702813 http://dx.doi.org/10.1097/MD.0000000000020574

Ejemplares similares

Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia
por: Ahn, Hyunji, 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)

The adult phenotype of Schaaf-Yang syndrome
por: Marbach, Felix, et al.
Publicado: (2020)

Report of two cases of Schaaf‐Yang syndrome: Same genotype and different phenotype
por: Rodriguez, Ana Maria, et al.
Publicado: (2023)

The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families
por: Fountain, Michael D., et al.
Publicado: (2016)

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)

Schaaf‐Yang syndrome overview: Report of 78 individuals
por: McCarthy, John, et al.
Publicado: (2018)

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

Spinocerebellar ataxia 2 in a family with different phenotypes: Two case reports
por: Li, Yuanyuan, et al.
Publicado: (2019)

Schaaf-Yang Syndrome: A Real Challenge for Prenatal Diagnosis
por: Nunes, Sara, et al.
Publicado: (2021)

Importance of early detection of juvenile polyposis syndrome: A case report and literature review
por: Shen, Na, et al.
Publicado: (2020)

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

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy
por: Negishi, Yutaka, et al.
Publicado: (2019)

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)

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)

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

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

Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype
por: Choi, Jin-Ho, et al.
Publicado: (2017)

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)

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

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)

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

Admixed phenotype of NEDD4L associated periventricular nodular heterotopia: A case report
por: Pecimonova, Martina, et al.
Publicado: (2021)

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

Fibrodysplasia ossificans progressiva in a young adult with genetic mutation: Case report
por: Wang, Zhankui, et al.
Publicado: (2021)

Genetic analysis and management of a familial hypercholesterolemia pedigree with polygenic variants: Case report
por: Han, Yu, et al.
Publicado: (2023)

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

Diagnostic performance of artificial intelligence to detect genetic diseases with facial phenotypes: A protocol for systematic review and meta analysis
por: Qin, Bosheng, et al.
Publicado: (2020)

Paternal Hemizygosity in 11p15 in Mole-like Conceptuses: Two Case Reports
por: Sunde, Lone, et al.
Publicado: (2015)

Multiple adverse drug reactions and genetic polymorphism testing: A case report with negative result
por: Arellano, Ana Lucía, et al.
Publicado: (2017)

Pharmacogenetic and case–control study on potassium channel related gene variants and genetic generalized epilepsy
por: Qu, Jian, et al.
Publicado: (2017)

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

Clinical and genetic features of four patients with Pearson syndrome: An observational study
por: Son, Ji Soo, et al.
Publicado: (2022)

Preimplantation genetic testing and prenatal diagnosis in a family with pseudovaginal perineoscrotal hypospadias: A case report
por: Chen, Jiayao, et al.
Publicado: (2023)

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)

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)

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

A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism
por: D. Hidalgo-Santos, Antonio, et al.
Publicado: (2018)

mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome
por: Crutcher, Emeline, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_iuj12h68d7cpn5m5omcrphm4rj