Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis

Congenit Anom (Kyoto). 2018 Jul;58(4):145-146. doi: 10.1111/cga.12258. Epub 2017 Nov 16.

Authors

Yumi Enomoto¹, Yoshinori Tsurusaki¹, Noriaki Harada², Noriko Aida³, Kenji Kurosawa⁴

Affiliations

¹ Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
² Department of Clinical Laboratory, Kanagawa Children's Medical Center, Yokohama, Japan.
³ Department of Radiology, Kanagawa Children's Medical Center, Yokohama, Japan.
⁴ Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

PMID: 28990699
DOI: 10.1111/cga.12258

No abstract available

Publication types

Case Reports

MeSH terms

Adaptor Proteins, Signal Transducing / genetics*
Child, Preschool
Exome Sequencing
Female
Frameshift Mutation*
Gene Expression
Humans
Megalencephaly / diagnostic imaging
Megalencephaly / genetics*
Megalencephaly / pathology
Osteosclerosis / diagnostic imaging
Osteosclerosis / genetics*
Osteosclerosis / pathology
Protein Domains
Radiography
Tumor Suppressor Proteins / genetics*

Substances

AMER1 protein, human
Adaptor Proteins, Signal Transducing
Tumor Suppressor Proteins

Supplementary concepts

Osteopathia striata cranial sclerosis