Cargando…

Geleophysic dysplasia caused by a mutation in FBN1: A case report

BACKGROUND: Geleophysic dysplasia (GD) presents the characterized clinical manifestations of acromelic dysplasia, including extremely short stature, short limbs, small hands and feet, stubby fingers and toes, joint stiffness and others. It is clinically distinct from the other acromelic dysplasia in...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tao, Ying, Wei, Qing, Chen, Xun, Nong, Guang-Min
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Baishideng Publishing Group Inc 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8409200/ https://www.ncbi.nlm.nih.gov/pubmed/34540975 http://dx.doi.org/10.12998/wjcc.v9.i24.7175

Ejemplares similares

A Review of Three Chinese Cases of Acromicric/Geleophysic Dysplasia with FBN1 Mutations
por: Shan, Yan-Chun, et al.
Publicado: (2021)

Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect
por: Piccolo, Pasquale, et al.
Publicado: (2019)

The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes
por: Globa, Evgenia, et al.
Publicado: (2018)

Geleophysic dysplasia associated with bilateral angle closure glaucoma
por: Saricaoglu, Murat Sinan, et al.
Publicado: (2013)

Fibrillin-1 Mutations Causing Weill-Marchesani Syndrome and Acromicric and Geleophysic Dysplasias Disrupt Heparan Sulfate Interactions
por: Cain, Stuart A., et al.
Publicado: (2012)

Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome
por: Li, Mojiang, et al.
Publicado: (2022)

Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking
por: Piccolo, Pasquale, et al.
Publicado: (2019)

Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment
por: Jin, Hyung Suk, et al.
Publicado: (2017)

Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia – a novel mouse model providing insights into geleophysic dysplasia
por: Hubmacher, Dirk, et al.
Publicado: (2015)

A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations
por: Lin, Jiansheng, et al.
Publicado: (2023)

A novel FBN1 mutation causes autosomal dominant Marfan syndrome
por: Xiao, Ying, et al.
Publicado: (2017)

Acromicric dysplasia with stiff skin syndrome‐like severe cutaneous presentation in an 8‐year‐old boy with a missense FBN1 mutation: Case report and literature review
por: Wang, Tao, et al.
Publicado: (2020)

Novel and recurrent FBN1 mutations causing Marfan syndrome in two Chinese families
por: Li, Dandan, et al.
Publicado: (2022)

Weill-Marchesani-like syndrome caused by an FBN1 mutation with low-penetrance
por: Yang, Guo-Yuan, et al.
Publicado: (2021)

Marfan Syndrome Caused by a Novel FBN1 Mutation With Associated Pigmentary Glaucoma
por: Kuchtey, John, et al.
Publicado: (2013)

A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report
por: Niu, Yuping, et al.
Publicado: (2020)

An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene
por: Daneshjoo, Omid, et al.
Publicado: (2020)

FBN1 Splice-Altering Mutations in Marfan Syndrome: A Case Report and Literature Review
por: Wang, James Jiqi, et al.
Publicado: (2022)

A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly in a five‐generation Chinese family
por: Zhou, Shiyuan, et al.
Publicado: (2018)

A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome
por: Torrado, Mario, et al.
Publicado: (2018)

A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family
por: Dong, Jiamei, et al.
Publicado: (2012)

Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation
por: Schnause, Anna Clara, et al.
Publicado: (2021)

Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis
por: Li, Hongyi, et al.
Publicado: (2012)

Observational Cohort Study of Ventricular Arrhythmia in Adults with Marfan Syndrome Caused by FBN1 Mutations
por: Aydin, Ali, et al.
Publicado: (2013)

C596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family
por: Wang, Fengyun, et al.
Publicado: (2015)

Acromicric dysplasia caused by a mutation of fibrillin 1 in a family: A case report
por: Shen, Ren, et al.
Publicado: (2023)

Severe neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene: A case report
por: Yoon, Su Hyun, et al.
Publicado: (2021)

A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report
por: Suliman, Asem, et al.
Publicado: (2022)

Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family
por: Fu, Qing, et al.
Publicado: (2014)

A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly
por: Liu, Wei, et al.
Publicado: (2015)

Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome
por: Meng, Bo, et al.
Publicado: (2011)

Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant
por: Overwater, Eline, et al.
Publicado: (2018)

The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2
por: Peeters, Silke, et al.
Publicado: (2022)

Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report
por: Fernández-Marmiesse, A., et al.
Publicado: (2019)

Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome
por: Wang, Yueli, et al.
Publicado: (2018)

Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome
por: McInerney‐Leo, Aideen M., et al.
Publicado: (2020)

Intravitreal injection of fibrillin 2 (Fbn2) recombinant protein for therapy of retinopathy in a retina-specific Fbn2 knock-down mouse model
por: Zhang, Rui Xue, et al.
Publicado: (2023)

De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation
por: Wang, Shuling, et al.
Publicado: (2017)

Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis
por: Liang, Chen, et al.
Publicado: (2011)

A novel FBN1 mutation in a Chinese family with isolated ectopia lentis
por: Yang, Guoxing, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_upl82ieg592f48i3dtvug4lshm