Erratum: Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)
نویسندگان
چکیده
منابع مشابه
Ricin Toxicity: Clinical and Molecular Aspects
Seeds of the castor bean plant Ricinuscommunis L (CB) contain ricin toxin (RT), one of the most poisonous naturally-occurring substances known. Ricin toxin, a water-soluble glycoprotein that does not partition into the oil extract, is a ribosome-inactivating toxin composed of two chains, labeled A and B. Severity of the toxicity varies depending on the route of exposure to the toxin. Inhalation...
متن کاملInherited 2q23.1 microdeletions involving the MBD5 locus
BACKGROUND Microdeletions of 2q23.1 disrupting MBD5 and loss of function mutations of MBD5 cause MBD5-Associated Neurodevelopmental disorders (MAND). Nearly all reported patients have been isolated cases of de novo origin. METHODS This study investigates three families with inherited MBD5 mutations from three different Regional Genetics Centres in the UK. RESULTS Two of the parents in the s...
متن کاملricin toxicity: clinical and molecular aspects
seeds of the castor bean plant ricinuscommunis l (cb) contain ricin toxin (rt), one of the most poisonous naturally-occurring substances known. ricin toxin, a water-soluble glycoprotein that does not partition into the oil extract, is a ribosome-inactivating toxin composed of two chains, labeled a and b. severity of the toxicity varies depending on the route of exposure to the toxin. inhalation...
متن کاملSensory Aspects of Neurodevelopmental Disorders
Learning Outcomes: 1. Describe the differences between the serial image of sensory input and multi-dimensional inputs. 2. List at least two ways that normal infants demonstrate the ability to shift from one sensory mode to another. 3. Describe two ways in which the therapist can utilize rhythm and timing of movement to achieve a desired response. 4. List at least 4 ways that the concepts in thi...
متن کاملMolecular and Clinical Aspects of Angelman Syndrome.
The Angelman syndrome is caused by disruption of the UBE3A gene and is clinically delineated by the combination of severe mental disability, seizures, absent speech, hypermotoric and ataxic movements, and certain remarkable behaviors. Those with the syndrome have a predisposition toward apparent happiness and paroxysms of laughter, and this finding helps distinguish Angelman syndrome from other...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2016
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2016.77