A new form or a variant of SMD type A4.

PubWeight™: 0.82‹?›

🔗 View Article (PMC 3402664)

Published in J Appl Genet on April 24, 2012

Authors

Ivo Marik1, Olga Hudakova, Sarka Petrasova, Lukasz Kuszel, Malwina Czarny-Ratajczak, Kazimierz Kozlowski

Author Affiliations

1: Ambulant Centre for Defects of Locomotor Apparatus, Olšanská 7, 130-00 Prague 3, Czech Republic.

Articles cited by this

The spondylometaphyseal dysplasias. A tentative classification. Pediatr Radiol (1991) 1.03

Spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Med Genet A (2004) 0.96

A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation. J Clin Endocrinol Metab (2004) 0.94

A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia. J Clin Endocrinol Metab (1999) 0.91

Spondylometaphyseal dysplasia in two sibs of normal parents. Pediatr Radiol (1978) 0.90

Spondylo-metaphyseal dysplasias (report of a case of common type and three pairs of siblings of new varieties). Australas Radiol (1976) 0.89

A new type of spondylo-metaphyseal dysplasia--Algerian type. Report of five cases. Pediatr Radiol (1988) 0.89

Spondylometaphyseal dysplasia, Sedaghatian type. Am J Med Genet (1992) 0.86

Metaphyseal chondrodysplasia with cone-shaped epiphyses: a specific form involving the lower limbs. Am J Med Genet A (2004) 0.81

Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta. Am J Med Genet (1991) 0.81

Severe neonatal spondylometaphyseal dysplasia in two siblings. Am J Med Genet A (2009) 0.80

Jansen type of spondylometaphyseal dysplasia. Skeletal Radiol (2000) 0.80

A rare form of spondylometaphyseal dysplasia-type A4. Am J Med Genet (1998) 0.79

Spondylometepiphyseal dysplasia congenita, Strudwick type. Pediatr Radiol (1991) 0.79

Articles by these authors

Telomere maintenance genes SIRT1 and XRCC6 impact age-related decline in telomere length but only SIRT1 is associated with human longevity. Biogerontology (2011) 1.03

Pachydermoperiostosis-critical analysis with report of five unusual cases. Eur J Pediatr (2007) 1.01

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

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients. Am J Med Genet A (2004) 0.98

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. Eur J Hum Genet (2005) 0.96

Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes. Skeletal Radiol (2004) 0.95

A novel form of ischio-vertebral syndrome. Skeletal Radiol (2006) 0.90

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. Hum Genet (2011) 0.84

A variant or a "new" postaxial acrofacial dysostosis syndrome. Eur J Pediatr (2008) 0.81

Three new patients with FATCO: fibular agenesis with ectrodactyly. Am J Med Genet A (2012) 0.81

11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia. J Appl Genet (2013) 0.80

Severe neonatal spondylometaphyseal dysplasia in two siblings. Am J Med Genet A (2009) 0.80

Capital femoral epiphysis and growth plate of the asymptomatic hip joint in unilateral Perthes disease. J Pediatr Orthop B (2003) 0.79

New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. Am J Med Genet A (2010) 0.76

Osteoarthritis and telomere shortening. J Appl Genet (2014) 0.75

Severe, atypical form of dyschondrosteosis (report of two cases). Eur J Pediatr (2005) 0.75

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review. J Pediatr Orthop B (2008) 0.75

Juvenile nephronophtisis, short stature, partial adontia and skeletal abnormalities--a new syndromic association. Nephrol Dial Transplant (2006) 0.75

Expansion of Carraro syndrome or a new disorder? Eur J Pediatr (2009) 0.75

Only neutral polymorphisms found in the TIGR/myocilin gene of 45 Polish patients with primary open-angle glaucoma. J Appl Genet (2004) 0.75

A boy with severe craniodiaphyseal dysplasia and apparently normal mother. Am J Med Genet A (2007) 0.75

Two familial cases with a lethal gracile bone dysplasia and intrauterine growth retardation. Am J Med Genet A (2003) 0.75

Tributes. S Afr Med J (2016) 0.75

[Study of TIGR gene in patients with primary open angle glaucoma]. Klin Oczna (2004) 0.75

Ultrasound diagnosis of severe mesomelic dysplasia in two fetuses, associated with increased neck translucency and tetralogy of Fallot in one and cystic hygroma in the other. Am J Med Genet A (2010) 0.75