A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome

J Hum Genet. 2017 Aug;62(8):739-740. doi: 10.1038/jhg.2017.58. Epub 2017 Jun 1.

Authors

Tadashi Kaname¹, Kumiko Yanagi¹

Affiliation

¹ Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.

No abstract available

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology
Bone Diseases, Developmental / complications
Bone Diseases, Developmental / genetics*
Bone Diseases, Developmental / pathology
Face / abnormalities*
Face / pathology
Facies
Genetic Variation*
Hand Deformities, Congenital / complications
Hand Deformities, Congenital / genetics*
Hand Deformities, Congenital / pathology
Humans
Intellectual Disability / complications
Intellectual Disability / genetics*
Intellectual Disability / pathology
Micrognathism / complications
Micrognathism / genetics*
Micrognathism / pathology
Neck / abnormalities*
Neck / pathology
Phenotype
Prognosis
Repressor Proteins / genetics*
Tooth Abnormalities / complications
Tooth Abnormalities / genetics*
Tooth Abnormalities / pathology

Substances

ANKRD11 protein, human
Repressor Proteins

Supplementary concepts

Coffin-Siris syndrome
KBG syndrome