- Rubinstein–
Taybi syndrome (RTS) is a rare
genetic condition characterized by
short stature,
moderate to
severe learning difficulties,
distinctive facial...
-
Taybi syndrome may
refer to: Oto-palato-digital syndrome,
formerly known as
Taybi syndrome Rubinstein–
Taybi syndrome, a
syndrome characterized by unusual...
- microcephaly.
Microcephalic osteodysplastic primordial dwarfism type I (MODPD1) (
Taybi–Linder syndrome) 210710 This form of
primordial dwarfism is
often shortened...
-
syndrome type 2 Rubinstein-
Taybi syndrome due to 16p13.3
microdeletion Rubinstein-
Taybi syndrome due to
CREBBP mutations Rubinstein-
Taybi syndrome due to EP300...
-
Williams syndrome Miller–Dieker
syndrome Smith–Magenis
syndrome Rubinstein–
Taybi syndrome Wolf–Hirschhorn
syndrome H.
William Taeusch;
Roberta A. Ballard;...
- few
other studies since then,
including the
study that
defined Rubinstein–
Taybi syndrome in 1963. "Stub thumb" is the
common term
preferred by the online...
- of the anomalies, but in many
other syndromes (Down syndrome, Rubinstein–
Taybi syndrome, etc.),
brachydactyly is a
minor feature compared to the other...
- this post-translational
modification influences their function. Rubinstein–
Taybi syndrome (RTS) is a rare
genetic disorder that is the
result of genetic...
-
Osteopathia Striata with
Cranial Sclerosis Pfeiffer syndrome Rubinstein-
Taybi syndrome Russell-Silver
syndrome (Russell-Silver dwarf)
Thanatophoric dysplasia...
-
include craniofacial dysostosis, Klippel–Feil syndrome, and Rubinstein–
Taybi syndrome. It is one of the two
categories of
constitutional disorders of...