Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies in China caused by novel mutations of PLAA

Clin Genet. 2019 Oct;96(4):380-381. doi: 10.1111/cge.13608. Epub 2019 Jul 31.

Authors

Congling Dai¹, Sicong Zeng^{1

2}, Zhenhua Tan³, Xiaowen Yang², Juan Du^{1

2}, Guangxiu Lu^{1

2}, Jian Wang^{1

2

3}

Affiliations

¹ Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Hunan, China.
² Reproductive and Genetic Hospital of Citic-Xiangya, Hunan, China.
³ Hunan Guangxiu Hospital, Hunan, China.

PMID: 31322726
DOI: 10.1111/cge.13608

No abstract available

Publication types

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

MeSH terms

Brain / abnormalities*
China
DNA Mutational Analysis
Electroencephalography
Female
Humans
Magnetic Resonance Imaging
Male
Microcephaly / diagnosis*
Microcephaly / genetics*
Muscle Spasticity / diagnosis*
Muscle Spasticity / genetics*
Mutation*
Neurodevelopmental Disorders / diagnosis*
Neurodevelopmental Disorders / genetics*
Pedigree
Proteins / genetics*

Substances

Proteins
phospholipase A2-activating protein