A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes.
Eur J Med Genet
; 58(10): 550-5, 2015 Oct.
Article
in En
| MEDLINE
| ID: mdl-26370006
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Patella
/
Psychomotor Disorders
/
Scrotum
/
Urogenital Abnormalities
/
Exons
/
Blepharophimosis
/
Craniofacial Abnormalities
/
Congenital Hypothyroidism
/
Histone Acetyltransferases
/
Heart Defects, Congenital
Type of study:
Diagnostic_studies
Limits:
Child
/
Female
/
Humans
Language:
En
Journal:
Eur J Med Genet
Journal subject:
GENETICA MEDICA
Year:
2015
Document type:
Article