Possible underreporting of pathogenic variants in RAI1 causing Smith-Magenis syndrome

Am J Med Genet A. 2021 Oct;185(10):3167-3169. doi: 10.1002/ajmg.a.62380. Epub 2021 Jun 4.

Authors

Erik Boot^{1

2

3}, Cathelijne C Linders^{1

4}, Sterre H Tromp⁴, Marie-José van den Boogaard⁴, Agnies M van Eeghen^{1

5}

Affiliations

¹ Advisium, 's Heeren Loo, Amersfoort, The Netherlands.
² The Dalglish Family 22q Clinic, University Health Network, Toronto, Ontario, Canada.
³ Department of Psychiatry & Neuropsychology, Maastricht University, Maastricht, The Netherlands.
⁴ Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
⁵ Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, The Netherlands.

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Child
Child, Preschool
Chromosomes, Human, Pair 17 / genetics
Female
Genetic Predisposition to Disease*
Humans
Infant
Infant, Newborn
Male
Neurodevelopmental Disorders / genetics*
Neurodevelopmental Disorders / pathology
Smith-Magenis Syndrome / genetics*
Smith-Magenis Syndrome / pathology
Trans-Activators / genetics*
Young Adult

Substances

RAI1 protein, human
Trans-Activators