The phenotype of multiple congenital anomalies‐hypotonia‐seizures syndrome 1: Report and review期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

The phenotype of multiple congenital anomalies‐hypotonia‐seizures syndrome 1: Report and review

Authors:	Natario L. Couser Maheer M. Masood Natasha T. Strande Ann Katherine M. Foreman Kristy Crooks Karen E. Weck Mei Lu Kirk C. Wilhelmsen Myra Roche James P. Evans Jonathan S. Berg Cynthia M. Powell

Affiliation:	1. Department of Ophthalmology, University of North Carolina School of Medicine, Chapel Hill, North Carolina;2. Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina;3. Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, North Carolina;4. University of North Carolina School of Medicine, Chapel Hill, North Carolina;5. Department of Pathology and Laboratory Medicine, University of North Carolina School of Medicine, Chapel Hill, North Carolina

Abstract:

Keywords:	multiple congenital anomalies‐hypotonia‐seizures syndrome‐1(MCAHS1) PIGN gene North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing (NCGENES) exome sequencing