Ultra-rare syndromes: the example of Rubinstein–Taybi syndrome
S Spena, C Gervasini, D Milani - Journal of pediatric genetics, 2015 - thieme-connect.com
… Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an
intragenic deletion of the CREBBP gene. Am J Med Genet A 2010; 152A (7) 1847-1848 …
intragenic deletion of the CREBBP gene. Am J Med Genet A 2010; 152A (7) 1847-1848 …
Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome
N Zimmermann, AMBF Acosta, J Kohlhase… - European journal of …, 2007 - nature.com
The Rubinstein–Taybi syndrome (RSTS, MIM 180849), a dominant Mendelian disorder with
typical face, short stature, skeletal abnormalities, and mental retardation, is usually caused …
typical face, short stature, skeletal abnormalities, and mental retardation, is usually caused …
Rubinstein–Taybi syndrome: clinical and molecular overview
JH Roelfsema, DJM Peters - Expert reviews in molecular medicine, 2007 - cambridge.org
… Rubinstein–Taybi syndrome is characterised by mental retardation, growth retardation and
a particular dysmorphology. The syndrome is rare, with a frequency of approximately one …
a particular dysmorphology. The syndrome is rare, with a frequency of approximately one …
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
D Milani, FMP Manzoni, L Pezzani, P Ajmone… - Italian Journal of …, 2015 - Springer
… Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease,
with an estimated prevalence of one case per 125,000 live births. RSTS is characterized …
with an estimated prevalence of one case per 125,000 live births. RSTS is characterized …
Etiology and recurrence risk in Rubinstein‐Taybi syndrome
RCM Hennekam, CA Stevens… - American Journal of …, 1990 - Wiley Online Library
… Rubinstein-Taybi syndrome is a rare condition of unknown cause. No indication for
environmental causes was found, but they can never be excluded. Consistent chromosomal defects …
environmental causes was found, but they can never be excluded. Consistent chromosomal defects …
[HTML][HTML] Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature
… Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder,
characterized by postnatal growth deficiency, typical dysmorphic features, broad thumbs and toes…
characterized by postnatal growth deficiency, typical dysmorphic features, broad thumbs and toes…
[HTML][HTML] Rubinstein-Taybi Syndrome
CA Stevens - 2019 - europepmc.org
… Floating-Harbor syndrome is caused by a pathogenic variant in SRCAP, which encodes
an SNF2-related chromatin-remodeling factor that serves as a coactivator for CREB-binding …
an SNF2-related chromatin-remodeling factor that serves as a coactivator for CREB-binding …
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
M López, V Seidel, P Santibáñez… - BMC Medical …, 2016 - Springer
… Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant
genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short …
genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short …
Rubinstein-Taybi syndrome: a model of epigenetic disorder
J Van Gils, F Magdinier, P Fergelot, D Lacombe - Genes, 2021 - mdpi.com
… The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder
characterized by a typical facial dysmorphism, distal limb abnormalities, intellectual disability, and …
characterized by a typical facial dysmorphism, distal limb abnormalities, intellectual disability, and …
Refining the phenotypical and mutational spectrum of Taybi‐Linder syndrome
A Putoux, A Alqahtani, L Pinson… - Clinical …, 2016 - Wiley Online Library
… rare syndrome including unusual features found in two twin foetuses with compound
heterozygosity for two rare … This work provides an antenatal description of this rare syndrome and …
heterozygosity for two rare … This work provides an antenatal description of this rare syndrome and …
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