Phenotype-genotype complexities: opening DOORS

Lancet Neurol. 2014 Jan;13(1):24-5. doi: 10.1016/S1474-4422(13)70237-0. Epub 2013 Nov 29.

Authors

Samuel F Berkovic¹, Jozef Gecz²

Affiliations

¹ Epilepsy Research Centre, Melbourne Brain Centre, Austin Health, 245 Burgundy Street, Heidelberg, VIC 3084, Australia. Electronic address: s.berkovic@unimelb.edu.au.
² School of Paediatrics and Reproductive Health, The University of Adelaide at the Women's and Children's Hospital, North Adelaide, Adelaide SA 5006, Australia.

PMID: 24291219
DOI: 10.1016/S1474-4422(13)70237-0

No abstract available

Publication types

Letter
Comment

MeSH terms

Carrier Proteins / genetics*
Craniofacial Abnormalities / genetics*
Exome / genetics*
Female
GTPase-Activating Proteins
Hand Deformities, Congenital / genetics*
Hearing Loss, Sensorineural / genetics*
Humans
Intellectual Disability / genetics*
Internationality*
Male
Membrane Proteins
Nails, Malformed / genetics*
Nerve Tissue Proteins
Phenotype*
Sequence Analysis, DNA / methods*

Substances

Carrier Proteins
GTPase-Activating Proteins
Membrane Proteins
Nerve Tissue Proteins
TBC1D24 protein, human

Supplementary concepts

Digitorenocerebral Syndrome