If not Angelman, what is it? a review of Angelman-like syndromes-Reference-Cited by-同舟云学术

If not Angelman, what is it? a review of Angelman-like syndromes

Published:2014-01-29 Issue:4 Volume:164 Page:975-992
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Tan Wen-Hann¹²,Bird Lynne M.¹³⁴,Thibert Ronald L.⁵,Williams Charles A.⁶

Affiliation:

1. NIH Rare Diseases Clinical Research Network-Angelman, Rett, & Prader-Willi Syndromes Consortium; Birmingham Alabama

2. Division of Genetics; Boston Children's Hospital; Harvard Medical School; Boston Massachusetts

3. Department of Pediatrics; University of California; San Diego California

4. Division of Genetics/Dysmorphology; Rady Children's Hospital San Diego; San Diego California

5. Department of Neurology; Massachusetts General Hospital; Harvard Medical School; Boston Massachusetts

6. Raymond C. Philips Unit, Division of Genetics and Metabolism; University of Florida College of Medicine; Gainesville Florida

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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3. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction;Amiel;Am J Hum Genet,2007

4. Puppet children”: A report on three cases;Angelman;Dev Med Child Neurol,1965

5. Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome;Arn;Am J Med Genet,1998

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