NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
0.610 |
GeneticVariation
|
disease |
UNIPROT |
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
|
30368668 |
2019 |
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
0.610 |
GeneticVariation
|
disease |
BEFREE |
This result expands the clinical spectrum of NSLH2 and strengthens the association between the PPP1CB gene and epileptic seizures.
|
30236064 |
2018 |
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
0.610 |
GeneticVariation
|
disease |
UNIPROT |
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.
|
28211982 |
2017 |
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.
|
28211982 |
2017 |
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
0.610 |
GeneticVariation
|
disease |
UNIPROT |
Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.
|
27868344 |
2017 |
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
0.610 |
GeneticVariation
|
disease |
UNIPROT |
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
|
27264673 |
2016 |
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
0.610 |
GeneticVariation
|
disease |
UNIPROT |
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
|
27681385 |
2016 |
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
|
27681385 |
2016 |
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
|
27264673 |
2016 |
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Noonan-Like Syndrome With Loose Anagen Hair
|
0.510 |
GeneticVariation
|
disease |
BEFREE |
Noonan-like syndrome with loose anagen hair (NSLH, including NSLH1, OMIM #607721 and NSLH2, OMIM #617506) is characterized by typical features of NS with additional findings of macrocephaly, loose anagen hair, growth hormone deficiency in some, and a higher incidence of intellectual disability.
|
30240112 |
2018 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.510 |
GermlineCausalMutation
|
disease |
ORPHANET |
Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.
|
27868344 |
2017 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.510 |
Biomarker
|
disease |
CLINGEN |
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.
|
28211982 |
2017 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.510 |
GermlineCausalMutation
|
disease |
ORPHANET |
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.
|
28211982 |
2017 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.510 |
Biomarker
|
disease |
CLINGEN |
Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.
|
27868344 |
2017 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.510 |
Biomarker
|
disease |
CLINGEN |
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
|
27264673 |
2016 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.510 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
|
27264673 |
2016 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.510 |
Biomarker
|
disease |
CLINGEN |
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
|
27681385 |
2016 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.510 |
Biomarker
|
disease |
CLINGEN |
De novo mutations in moderate or severe intellectual disability.
|
25356899 |
2014 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.510 |
Biomarker
|
disease |
CLINGEN |
An MRAS, SHOC2, and SCRIB complex coordinates ERK pathway activation with polarity and tumorigenic growth.
|
24211266 |
2013 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.510 |
Biomarker
|
disease |
CLINGEN |
A phosphatase holoenzyme comprised of Shoc2/Sur8 and the catalytic subunit of PP1 functions as an M-Ras effector to modulate Raf activity.
|
16630891 |
2006 |
Noonan Syndrome
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
We identified eight LZTR1 variants, including a de novo variant, in seven probands who were suspicious for NS and one known de novo PPP1CB variant in a patient with NS.
|
30368668 |
2019 |
Noonan Syndrome
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
MRAS, SHOC2, and PPP1CB are mutated in Noonan syndrome, and we show that syndromic mutations invariably promote complex formation with each other, but not necessarily with other interactors.
|
30348783 |
2018 |
Noonan Syndrome
|
0.350 |
Biomarker
|
disease |
BEFREE |
Noonan-like syndrome with loose anagen hair (NSLH, including NSLH1, OMIM #607721 and NSLH2, OMIM #617506) is characterized by typical features of NS with additional findings of macrocephaly, loose anagen hair, growth hormone deficiency in some, and a higher incidence of intellectual disability.
|
30240112 |
2018 |