KEGG VARIANT: 9758v1

VARIANT: 9758v1

Entry

9758v1                      Variant

Name

FRMPD4 mutation

Type

Loss of function

Gene

FRMPD4 FERM and PDZ domain-containing protein 4 isoform e [KO:K23956]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 300838

Network

nt06544 Neuroactive ligand signaling

Disease

H00480

X-linked intellectual developmental disorder

Reference

PMID:29267967

Authors

Piard J, Hu JH, Campeau PM, Rzonca S, Van Esch H, Vincent E, Han M, Rossignol E, Castaneda J, Chelly J, Skinner C, Kalscheuer VM, Wang R, Lemyre E, Kosinska J, Stawinski P, Bal J, Hoffman DA, Schwartz CE, Van Maldergem L, Wang T, Worley PF

Title

FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.

Journal

Hum Mol Genet 27:589-600 (2018)
DOI:10.1093/hmg/ddx426

LinkDB

DBGET integrated database retrieval system