Background: T-box family members are transcription factors characterized by highly conserved residues corresponding to the DNA-binding domain known as the T-box. TBX2 has been implicated in several developmental processes, such as coordinating cell fate, patterning, and morphogenesis of a wide range of tissues and organs, including lungs, limbs, heart, kidneys, craniofacial structures, and mammary glands.Methods: In the present study, we have clinically and genetically characterized a proband showing a severe form of chondrodysplasia with developmental delay. Whole-exome sequencing (WES), Sanger sequencing, and 3D protein modeling were performed in the present investigation.Results: Whole-exome sequencing revealed a novel nonsense variant (...
International audienceThe 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion dis...
Members of the evolutionarily conserved T-box family of transcription factors are important players ...
T-box transcription factor, TBX1, is the major candidate gene for 22q11.2 deletion syndrome (DiGeorg...
Skeletal dysplasias comprise a heterogenous group of developmental disorders of skeletal and cartila...
The T-box transcription factor Tbx5 is important in mammalian cardiac development. Mutations in the ...
SummaryUlnar-mammary syndrome (UMS) is a pleiotropic disorder affecting limb, apocrine-gland, tooth,...
Ulnar-mammary syndrome (UMS) is a pleiotropic disorder affecting limb, apocrine-gland, tooth, hair, ...
Ulnar-mammary syndrome (UMS) is a pleiotropic disorder affecting limb, apocrine-gland, tooth, hair, ...
PURPOSE: This study aimed to describe a multisystemic disorder featuring cardiovascular, facial, mus...
BACKGROUND: Although TBX1 mutations have been identified in patients with 22q11.2 deletion syndrome ...
Purpose: This study aimed to describe a multisystemic disorder featuring cardiovascular, facial, mus...
Background: Congenital heart diseases are the most frequent birth defects and are commonly associate...
Copyright © 2015 Irma Eloisa Monroy-Muñoz et al. This is an open access article distributed under t...
Contains fulltext : 58693.pdf (publisher's version ) (Closed access)Small patella ...
DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome have been associ...
International audienceThe 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion dis...
Members of the evolutionarily conserved T-box family of transcription factors are important players ...
T-box transcription factor, TBX1, is the major candidate gene for 22q11.2 deletion syndrome (DiGeorg...
Skeletal dysplasias comprise a heterogenous group of developmental disorders of skeletal and cartila...
The T-box transcription factor Tbx5 is important in mammalian cardiac development. Mutations in the ...
SummaryUlnar-mammary syndrome (UMS) is a pleiotropic disorder affecting limb, apocrine-gland, tooth,...
Ulnar-mammary syndrome (UMS) is a pleiotropic disorder affecting limb, apocrine-gland, tooth, hair, ...
Ulnar-mammary syndrome (UMS) is a pleiotropic disorder affecting limb, apocrine-gland, tooth, hair, ...
PURPOSE: This study aimed to describe a multisystemic disorder featuring cardiovascular, facial, mus...
BACKGROUND: Although TBX1 mutations have been identified in patients with 22q11.2 deletion syndrome ...
Purpose: This study aimed to describe a multisystemic disorder featuring cardiovascular, facial, mus...
Background: Congenital heart diseases are the most frequent birth defects and are commonly associate...
Copyright © 2015 Irma Eloisa Monroy-Muñoz et al. This is an open access article distributed under t...
Contains fulltext : 58693.pdf (publisher's version ) (Closed access)Small patella ...
DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome have been associ...
International audienceThe 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion dis...
Members of the evolutionarily conserved T-box family of transcription factors are important players ...
T-box transcription factor, TBX1, is the major candidate gene for 22q11.2 deletion syndrome (DiGeorg...