Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome. (Q34425369)

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20 March 2020

title

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome (English)

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Lisenka Vissers

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Suzanna G.m. Frints

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Joep de Ligt

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Ana Justino

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José C. Machado

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Joris A Veltman

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Jose Luis Costa

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Han G Brunner

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Willy M Nillesen

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Helger G Yntema

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author name string

Monica Bonetti

2

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Jeroen Paardekooper Overman

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Giuseppe Zampino

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Marga Schepens

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Hans Scheffer

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Piet Gros

14

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Ineke van der Burgt

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Jeroen den Hertog

19

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publication date

18 June 2014

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European Journal of Human Genetics

20 March 2020

published in

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volume

23

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issue

3

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page(s)

317-324

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https://scigraph.springernature.com/pub.10.1038/ejhg.2014.115

20 March 2020

exact match

0 references

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Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

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Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

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Binding of alpha2ML1 to the low density lipoprotein receptor-related protein 1 (LRP1) reveals a new role for LRP1 in the human epidermis

6 July 2018

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PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

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Mild variable Noonan syndrome in a family with a novel PTPN11 mutation

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PubMed

https://pubmed.ncbi.nlm.nih.gov/24939586

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/24939586

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2014.115

1 reference

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20 March 2020

1 reference

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20 March 2020

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