Você conhece esta síndrome? Do you know this Syndrome?

Você conhece esta síndrome? Do you know this Syndrome?

A síndrome de Rothmund-Thomson é distúrbio autossômico recessivo de expressividade variável associado a mutações do gene RecQL4. Caracteriza-se por poiquilodermia, alopecia, defeitos de crescimento e desenvolvimento, catarata juvenil, alterações dentárias e esqueléticas e predisposição ao câncer cut...

Full description

Bibliographic Details
Main Authors:	Silvio Alencar Marques, Fabíola de Paula Pereira, Hamilton Ometto Stolf
Format:	Article
Language:	English
Published:	Sociedade Brasileira de Dermatologia 2008-10-01
Series:	Anais Brasileiros de Dermatologia
Subjects:	Alopecia Catarata Poiquilodermia congênita Síndrome de Rothmund-Thomson Cataract Poikiloderma congenitale Rothmund-Thomson syndrome
Online Access:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962008000500014

Similar Items

Perioperative management in Rothmund–Thomson syndrome: A case report
by: Ahmed Uslu, et al.
Published: (2023-01-01)

Rothmund-Thomson syndrome: a case series from a tertiary pediatric hospital in Mexico
by: Alicia P. Sánchez-Padilla, et al.
Published: (2022-01-01)

Rothmund-Thomson Syndrome Associated with Malignant Fibrous Histiocytoma: Report of a Case and Review of Literature
by: Mir Hadi Aziz Jalali, et al.
Published: (2012-03-01)

Rothmund–Thomson syndrome presenting with bullous eruption: A rare case report
by: Akshat Tamta, et al.
Published: (2019-01-01)

Síndrome de Rothmund-Thomson. Presentación de un caso
by: Elayne Esther Santana Hernández, et al.

Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings
by: Ji Young Yang, MD, et al.
Published: (2017-05-01)

Rothmund-Thomson syndrome, a disorder far from solved
by: Davi Jardim Martins, et al.
Published: (2023-11-01)

The diagnostic dilemma of rothmund-thomson syndrome Type II: A rare disorder with a novel mutation in the RECQL4 gene in an Indian Boy
by: Manisha Goyal, et al.
Published: (2022-01-01)

Genetic alterations in syndromes with oral manifestations
by: Krishnamurthy Anuthama, et al.
Published: (2013-01-01)

Rothmund-Thomson Syndrome: A 13-Year Follow-Up
by: Guillermo Antonio Guerrero-González, et al.
Published: (2014-07-01)

Clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome
by: Katharina Morant Holanda De Oliveira, et al.
Published: (2016-01-01)

Ophthalmic manifestations in Rothmund–Thomson syndrome: Case report and review of literature
by: J T Chinmayee, et al.
Published: (2017-01-01)

Molecular and Cellular Responses to Ionization Radiation in Untransformed Fibroblasts from the Rothmund–Thomson Syndrome: Influence of the Nucleo-Shuttling of the ATM Protein Kinase
by: Joëlle Al-Choboq, et al.
Published: (2023-01-01)

Síndrome de Rothmund
by: Thiago Gonçalves dos Santos Martins, et al.
Published: (2015-12-01)

Germline <i>NUP98</i> Variants in Two Siblings with a Rothmund–Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling
by: Elisa Adele Colombo, et al.
Published: (2023-02-01)

Novel <it>C16orf57 </it>mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
by: Colombo Elisa A, et al.
Published: (2012-01-01)

Juvenile dermatogenous cataract. Case report with long-term follow-up
by: V.G. Kopayeva
Published: (2013-02-01)

JUVENILE DERMATOGENOUS CATARACT. CASE REPORT WITH LONG-TERM FOLLOW-UP
by: V. G. Kopayeva
Published: (2015-12-01)

Reticulate pigmentation associated with scarring alopecia in an elderly woman: An unusual manifestation of lichen planus pigmentosus
by: Vinod Kumar Sharma, et al.
Published: (2016-01-01)

Point configurations minimizing harmonic energy on spheres
by: Ballinger, Brandon, et al.
Published: (2021)

Você conhece esta síndrome?
by: Gleison Vieira Duarte, et al.
Published: (2011-12-01)

Do you know this syndrome? Você conhece esta síndrome?
by: Laura Maria Andrade Silveira, et al.
Published: (2013-06-01)

Você conhece esta síndrome? Do you know this syndrome?
by: Nadia Aparecida Pereira de Almeida, et al.
Published: (2010-02-01)

Cataractes congénitales : Expérience du service d’ophtalmologie du CHU – Oujda
by: R. JOMAA, et al.
Published: (2019-06-01)

¿Los modelos atómicos de Thomson y Rutherford que se presentan habitualmente en las clases se corresponden con sus aportaciones?
by: Josep Lluís Domènech Blanco, et al.
Published: (2012-12-01)

¿Los modelos atómicos de Thomson y Rutherford que se presentan habitualmente en las clases se corresponden con sus aportaciones?
by: Josep Lluís Domènech Blanco, et al.
Published: (2012-12-01)

La lógica de la Corte Constitucional: El caso del aborto
by: Pablo R. Arango Giraldo
Published: (2006-12-01)

15 Aniversario Scielo
by: Rodolfo Crespo Montero
Published: (2014-01-01)

Performance of Segmented Thermoelectric Cooler Micro-Elements with Different Geometric Shapes and Temperature-Dependent Properties
by: Carlos Alberto Badillo-Ruiz, et al.
Published: (2018-02-01)

Thomson scattering for x-ray generation through collision between laser and electron beams
by: Lubna Al - Sakal
Published: (2010-03-01)

A nossa guerra civil do século XIX: O porquê do equívoco liberal
by: Mário Beja Santos, Licentiate History
Published: (2021-10-01)

La cataracte céruléenne : à propos d´un cas
by: Aymane Ridallah, et al.
Published: (2020-09-01)

Myopathy, what is the most likely diagnosis?
by: Albina Moreira, et al.
Published: (2020-04-01)

A Model for Material Metrics in Thermoelectric Thomson Coolers
by: Mona Zebarjadi, et al.
Published: (2023-11-01)

Optical Properties of Thomson Scattering Diagnostics Lower Window Glass under Laser Irradiation
by: Jian Zhou, et al.
Published: (2021-05-01)

Description of bandgaps opening in chiral phononic crystals by analogy with Thomson scattering
by: Wei Ding, et al.
Published: (2023-01-01)

Advent and implications of cryosurgery in maxillofacial mucosal lesions
by: Pathumai Murugadoss, et al.
Published: (2016-01-01)

Design of Nano-Structured Micro-Thermoelectric Generator: Load Resistance and Inflections in the Efficiency
by: Carlos Alberto Badillo-Ruiz, et al.
Published: (2019-02-01)

X- Ray generation via Thomson Scattering
by: Salim Al-Shamma, et al.
Published: (1999-11-01)

Various types of Alopecia and the options of the treatment
by: Afrah Thiab Hlail
Published: (2020-12-01)