Condition: Three M Syndrome 1
rs121918229 in
CUL7 gene and
Three M Syndrome 1
PMID 23018678 2012 Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.
PMID 21364696 2011 Clinical utility gene card for: 3M syndrome.
PMID 17675530 2007 Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.
PMID 16142236 2005 Identification of mutations in CUL7 in 3-M syndrome.
rs61752334 in
KLC4;CUL7 gene and
Three M Syndrome 1
PMID 23018678 2012 Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.
PMID 21364696 2011 Clinical utility gene card for: 3M syndrome.
PMID 17675530 2007 Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.
PMID 16142236 2005 Identification of mutations in CUL7 in 3-M syndrome.