Related Experiment Video
Updated: Feb 15, 2026

Author Spotlight: Investigating the Mechanisms and Inducing Models of Polycystic Ovary Syndrome
Published on: July 5, 2024
Rubinstein-Taybi syndrome (broad thumb-hallux syndrome)
1Ronald O. Perelman Department of Dermatology, New York University, USA.
Abstract:
Rubinstein-Taybi syndrome is a rare genodermatosis with characteristic features that include downward sloping palphebral fissures, broad thumbs and halluces, and mental retardation. Dermatologic manifestations include capillary malformations, keloid formation, and pilomatricomas. Systemic features may involve the cardiac, audiologic, ophthalmologic, endocrine, neurologic, and respiratory systems. The syndrome is sporadic in nature and has been linked to microdeletion at 16p13.3 encoding CREB-binding protein gene (CREBBP).
More Related Videos
09:39Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
Published on: December 4, 2021
08:31Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome
Published on: July 31, 2016
Related Concept Videos
Acute Coronary Syndrome V: Nursing Management
Nephrotic Syndrome II : Assessment and Medical Management
Nephrotic Syndrome I : Introduction
Acute Coronary Syndrome I: Introduction
Irritable Bowel Syndrome I: Introduction
IBS is a chronic condition that can persist over a long period or recur frequently.
The pathogenesis of IBS involves a complex interplay of the following factors:
Altered...
Restless Leg Syndrome and Night Terrors
The exact cause of RLS is not fully understood, but it is believed to involve dopamine, a neurotransmitter that helps regulate muscle movement. Imbalances in dopamine levels...