Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome

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...

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Veröffentlicht in:	American journal of medical genetics. Part A 2015-05, Vol.167A (5), p.1111-1116
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Base Sequence Chromosome Mapping congenital anomalies E1A-Associated p300 Protein - genetics EP300 Exome - genetics Female Humans Infant Magnetic Resonance Imaging Mutation Pregnancy Radiography Rubinstein-Taybi syndrome Rubinstein-Taybi Syndrome - diagnostic imaging Rubinstein-Taybi Syndrome - etiology Rubinstein-Taybi Syndrome - genetics Rubinstein-Taybi Syndrome - physiopathology Sequence Deletion Spine - diagnostic imaging Spine - physiopathology Urogenital Abnormalities - genetics Urogenital Abnormalities - physiopathology whole genome sequencing
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