Published in Ann Lab Med on January 01, 2017
Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A (2007) 5.15
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet (2003) 2.26
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet A (2003) 1.79
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet (2008) 1.78
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. J Med Genet (2001) 0.96
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. PLoS One (2012) 0.92
Genetic and molecular aspects of acromelic dysplasia. Pediatr Endocrinol Rev (2009) 0.90
Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia. J Hum Genet (2014) 0.87
Skeletal dysplasia, growth hormone treatment and body proportion: comparison with other syndromic and non-syndromic short children. Horm Res (2003) 0.86
Disease-specific Growth Charts of Marfan Syndrome Patients in Korea. J Korean Med Sci (2015) 0.83
A consensus in Korea regarding a protocol to reduce preanalytical sources of variability in the measurement of the cerebrospinal fluid biomarkers of Alzheimer's disease. J Clin Neurol (2015) 0.79
Elevation of serum creatine kinase during methimazole treatment of Graves disease in a 13-year-old girl and a literature review of similar cases. Ann Pediatr Endocrinol Metab (2015) 0.79
Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1. J Korean Med Sci (2013) 0.78
Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome. Ann Lab Med (2016) 0.76
Orthopedic Manifestations of Type I Camurati-Engelmann Disease. Clin Orthop Surg (2017) 0.75
Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia. Korean J Pediatr (2014) 0.75
Guidelines for genetic skeletal dysplasias for pediatricians. Ann Pediatr Endocrinol Metab (2015) 0.75
An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing. Ann Pediatr Endocrinol Metab (2017) 0.75
2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis. Ann Pediatr Endocrinol Metab (2017) 0.75
Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi syndrome. Ann Clin Lab Sci (2015) 0.75