A new syndrome of familial short stature, small hands, valvular heart disease and a characteristic facies
Felicity Collins(Sydney Children's Hospital), Gary R. Turner(York University), Hugh Mulcahy(University College Dublin), M. W. Partington(University of King's College)
Cited by 8
Related Papers
Further segregation analysis of the fragile X syndrome with special reference to transmitting males
|Human Genetics|1985|512
PAK3 mutation in nonsyndromic X-linked mental retardation
|Nature Genetics|1998|472
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
|Nature Genetics|2002|437
The default network of the human brain is associated with perceived social isolation
|Nature Communications|2020|247
Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation
|The American Journal of Human Genetics|2008|223