Two patients with 19p13.2 deletion (Malan syndrome) involving NFIX and CACNA1A with overgrowth, developmental delay, and epilepsy

Clin Dysmorphol. 2017 Oct;26(4):224-227. doi: 10.1097/MCD.0000000000000185.

Authors

Yukiko Kuroda¹, Yoko Mizuno, Masakazu Mimaki, Akira Oka, Yusuke Sato, Seishi Ogawa, Kenji Kurosawa

Affiliation

¹ aDepartment of Pediatrics, Graduate School of Medicine, University of Tokyo bDepartment of Pediatrics, Teikyo University School of Medicine, Tokyo cDepartment of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto dDivision of Medial Genetics, Kanagawa Children's Medical Center, Kanagawa, Japan.

PMID: 28557812
DOI: 10.1097/MCD.0000000000000185

No abstract available

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Calcium Channels / genetics*
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 19 / genetics*
Developmental Disabilities / complications
Developmental Disabilities / genetics*
Epilepsy / complications
Epilepsy / genetics*
Female
Gene Deletion
Humans
Infant
Infant, Newborn
Male
NFI Transcription Factors / genetics*
Syndrome

Substances

CACNA1A protein, human
Calcium Channels
NFI Transcription Factors
NFIX protein, human