Article
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
American journal of medical genetics. Part A - 1 May 2015
Solomon Benjamin D, Bodian Dale L, Khromykh Alina, Mora Gabriela Gomez, Lanpher Brendan C, Iyer Ramaswamy K, Baveja Rajiv, Vockley Joseph G, Niederhuber John E
Abstract excerpt
Rubinstein-Taybi syndrome (RSTS) can be caused by heterozygous mutations or deletions involving CREBBP or, less commonly, EP300. To date, only 15 patients with EP300 mutations have been clinically described. Frequently reported manifestations in these patients include characteristic facial and limb features, varying degrees of neurocognitive dysfunction, and maternal preeclampsia. Other congenital anomalies are...
Topics
- Base Sequence
- Chromosome Mapping
- E1A-Associated p300 Protein
- Exome
- Female
- Humans
- Infant
- Magnetic Resonance Imaging
- Mutation
- Pregnancy
- Radiography
- Rubinstein-Taybi Syndrome
- Sequence Deletion
- Spine