Work

Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature

Year: 2018

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.61007

Authors: Maureen Handoko, Lisa T. Emrick, Jill A. Rosenfeld, Xia Wang, Alyssa A. Tran, Alicia Turner, John W. Belmont, Undiagnosed Diseases Network, Brendan H. Lee, Carlos A. Bacino, Hsiao‐Tuan Chao

Institutions: Baylor College of Medicine, Texas Children's Hospital

Language: English

Topic: Genetic and rare skin diseases.

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: American Academy of Neurology, Child Neurology Foundation, Baylor College of Medicine, National Institutes of Health, National Human Genome Research Institute, NIH Office of the Director, National Institute of Neurological Disorders and Stroke

Awards: G2005057026, G393547192, G5508335201, G8340848138, G9000058231, G9000111579

OpenAlex ID: W2906045451

FWCI: 1.253

Cites: 19

Cited by: 19

Related to: 10