Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia.

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet (2009) 1.64

Lysosomal storage disorders in the newborn. Pediatrics (2009) 1.29

Molecular analysis of the GlcNac-1-phosphotransferase. J Inherit Metab Dis (2008) 0.89

A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth. Korean J Pediatr (2012) 0.86

Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report. Meta Gene (2014) 0.78

Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005]. Am J Med Genet A (2005) 0.75

Early characteristic radiographic changes in mucolipidosis II. Pediatr Radiol (2016) 0.75

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. Arthritis Rheum (2010) 2.50

Mutations in different components of FGF signaling in LADD syndrome. Nat Genet (2006) 1.76

Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol (2009) 1.57

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet (2010) 1.27

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. Am J Hum Genet (2002) 1.27

Further delineation of cardiac abnormalities in Costello syndrome. Am J Med Genet (2002) 1.26

Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. Am J Med Genet A (2010) 1.20

Fragile X syndrome detection in newborns-pilot study. Genet Med (2008) 1.12

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. Am J Hum Genet (2012) 1.10

RMRP mutations in cartilage-hair hypoplasia. Am J Med Genet A (2006) 1.07

Molecular order in mucolipidosis II and III nomenclature. Am J Med Genet A (2008) 1.03

Czech dysplasia metatarsal type: another type II collagen disorder. Eur J Hum Genet (2007) 1.00

N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism. Clin Chem (2003) 1.00

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. Eur J Hum Genet (2006) 0.87

Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects. Pediatr Res (2005) 0.85

A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene. Eur J Hum Genet (2002) 0.85

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. Am J Hum Genet (2010) 0.84

Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria. Biochim Biophys Acta (2006) 0.82

Clinical comparison of overlapping deletions of 19p13.3. Am J Med Genet A (2013) 0.81

Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome. Clin Chem (2005) 0.80

Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome. Eur J Hum Genet (2005) 0.79

Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course. Am J Med Genet A (2009) 0.78

Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development. J Child Neurol (2011) 0.78

Long-term observation of a patient with dominant omodysplasia. Am J Med Genet A (2014) 0.77

Enzyme replacement therapy in the home setting for mucopolysaccharidosis VI: a survey of patient characteristics and physicians' early findings in the United States. J Infus Nurs (2009) 0.76

Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly. Mol Genet Metab (2010) 0.76

Neonatal upper airway obstruction in osteogenesis imperfecta: series of three cases and review of the literature. Ann Otol Rhinol Laryngol (2008) 0.75

A case of progressive quadriceps weakness and elevated creatine kinase level mimicking inclusion body myositis. Arthritis Care Res (Hoboken) (2014) 0.75

Unfortunate oversight. Am J Med Genet A (2003) 0.75