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Short and tall stature: a new paradigm emergesNF1 is a critical regulator of muscle development and metabolismCardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.Peripheral muscle weakness in RASopathies.Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.Impaired Osteogenesis of Disease-Specific Induced Pluripotent Stem Cells Derived from a CFC Syndrome Patient.Rare coding variants in MAPK7 predispose to adolescent idiopathic scoliosis.Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.Congenital anomalies in neurofibromatosis 1: a retrospective register-based total population study.Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases.Constitutional bone impairment in Noonan syndrome.Motor performance in children with Noonan syndrome.Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 14 April 2011
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
The musculoskeletal phenotype of the RASopathies.
@en
The musculoskeletal phenotype of the RASopathies.
@nl
type
label
The musculoskeletal phenotype of the RASopathies.
@en
The musculoskeletal phenotype of the RASopathies.
@nl
prefLabel
The musculoskeletal phenotype of the RASopathies.
@en
The musculoskeletal phenotype of the RASopathies.
@nl
P2860
P356
P1476
The musculoskeletal phenotype of the RASopathies.
@en
P2093
David A Stevenson
Feng-Chun Yang
P2860
P304
P356
10.1002/AJMG.C.30296
P577
2011-04-14T00:00:00Z