Cargando…

Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene

Background. Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant skeletal dysplasia caused by defects involving the TRPS1 gene. Three types (TRPSs I, II, and III) have been described, exhibiting the common triad of hair, craniofacial, and skeletal abnormalities. TRPS II includes the additi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Dias, Catarina, Isidoro, Lara, Santos, Mafalda, Santos, Helena, Marques, Jorge Sales
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2013
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652099/ https://www.ncbi.nlm.nih.gov/pubmed/23691375 http://dx.doi.org/10.1155/2013/748057

Ejemplares similares

Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I
por: Ovcharenko, Yuliya, et al.
Publicado: (2013)

An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I
por: Zepeda-Mendoza, Cinthya J., et al.
Publicado: (2019)

A Missense Mutation in TRPS1 in a Family with Trichorhinophalangeal Syndrome Type III Accompanied by Ankylosing Spondylitis
por: Fang, Xiaokai, et al.
Publicado: (2022)

Trichorhinophalangeal Syndrome
por: Vaccaro, Mario, et al.
Publicado: (2017)

A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature
por: Merjaneh, Lina, et al.
Publicado: (2014)

An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4
por: Selenti, Nikoletta, et al.
Publicado: (2015)

Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4
por: Selenti, Nikoletta, et al.
Publicado: (2015)

Treatment of Hair Loss in the Trichorhinophalangeal Syndrome
por: Choi, Mi Soo, et al.
Publicado: (2018)

Clinical, biochemical, and genetic analysis of two Korean patients with Trichorhinophalangeal syndrome type I and growth hormone deficiency
por: Sohn, Young Bae, et al.
Publicado: (2013)

Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome
por: Nicolescu, Corina Ramona, et al.
Publicado: (2018)

Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient
por: Kim, Yun-Ji, et al.
Publicado: (2017)

Trichorhinophalangeal syndrome type 1: A case report with literature review
por: Candamourty, Ramesh, et al.
Publicado: (2012)

Recombinant Human Growth Hormone Therapy for Childhood Trichorhinophalangeal Syndrome Type I: A Case Report
por: Huang, Dan, et al.
Publicado: (2022)

Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency
por: Domingues, Sara, et al.
Publicado: (2014)

The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients
por: Güneş, Nilay, et al.
Publicado: (2023)

Urgent Airway Management and Postoperative Complications in a Patient with Trichorhinophalangeal Syndrome
por: Esmaeilzadeh, Sarvie, et al.
Publicado: (2020)

TRPs in Pain Sensation
por: Jardín, Isaac, et al.
Publicado: (2017)

High grade osteosarcoma on a background of trichorhinophalangeal syndrome: A family perspective
por: Evans, Scott, et al.
Publicado: (2013)

An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
por: Trippella, Giulia, et al.
Publicado: (2018)

A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family
por: Itoh, Masatsune, et al.
Publicado: (2016)

TRPS1 mutation detection in Chinese patients with Tricho‐rhino‐phalangeal syndrome and identification of four novel mutations
por: Wang, Chen, et al.
Publicado: (2020)

Generalized Hypertrichosis After 5% Minoxidil Solution in Trichorhinophalangeal Syndrome: A Case Report and Review of the Literatures
por: Shin, Bong Seok, et al.
Publicado: (2023)

Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion
por: Li, Qi, et al.
Publicado: (2015)

TRPS1: A Marker of Follicular Differentiation
por: Rybski, Kristin J., et al.
Publicado: (2023)

Trps1-deficient transplanted skin gave rise to a substantial amount of hair: Trps1 is unnecessary for hair development
por: Zhang, Yingzhe, et al.
Publicado: (2019)

A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report
por: Smaili, W., et al.
Publicado: (2017)

Case report: A novel mutation in TRPS1 identified in a Chinese family with tricho-rhino-phalangeal syndrome I: A therapeutic challenge
por: Huang, Qi, et al.
Publicado: (2022)

The Combined Effect of Branching and Elongation on the Bioactivity Profile of Phytocannabinoids. Part I: Thermo-TRPs
por: Mattoteia, Daiana, et al.
Publicado: (2021)

Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly
por: Elli, Francesca Marta, et al.
Publicado: (2022)

ODP408 Elevated DHEAS and Acute Hair Loss in an Adult Male with Trichorhinophalangeal Syndrome Type 1: a Case of Male PCOS
por: Zenno, Anna, et al.
Publicado: (2022)

Phylogenetics Identifies Two Eumetazoan TRPM Clades and an Eighth TRP Family, TRP Soromelastatin (TRPS)
por: Himmel, Nathaniel J, et al.
Publicado: (2020)

Late Presentation of Tricho-Rhino-Phalangeal Syndrome (TRPS1 Affected) Associated Hip Pathology
por: Grace, Faye, et al.
Publicado: (2023)

Corrigendum to: Phylogenetics Identifies Two Eumetazoan TRPM Clades and an Eighth TRP Family, TRP Soromelastatin (TRPS)
por: Himmel, Nathaniel J, et al.
Publicado: (2020)

TRPS1 Is a Lineage-Specific Transcriptional Dependency in Breast Cancer
por: Witwicki, Robert M., et al.
Publicado: (2018)

TRPS1 regulates estrogen-receptor binding and histone acetylation at enhancers
por: Serandour, A.A, et al.
Publicado: (2018)

The Role of Tricho-Rhino-Phalangeal Syndrome (TRPS) 1 in Apoptosis during Embryonic Development and Tumor Progression
por: Sun, Yujing, et al.
Publicado: (2013)

A central role for TRPS1 in the control of cell cycle and cancer development
por: Wu, Lele, et al.
Publicado: (2014)

Overexpression of Trps1 contributes to tumor angiogenesis and poor prognosis of human osteosarcoma
por: Li, Zhishuang, et al.
Publicado: (2015)

TRPS1 shapes YAP/TEAD-dependent transcription in breast cancer cells
por: Elster, Dana, et al.
Publicado: (2018)

Reciprocal Regulation of TRPS1 and miR-221 in Intervertebral Disc Cells
por: Penolazzi, Letizia, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_5nei4e0fpj8dneb4t2hvt0tts8