about
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrheaMutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasiaNeu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayAxial Spondylometaphyseal Dysplasia Is Caused by C21orf2 MutationsComprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus.Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort studyIdentification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrationsA novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS DeletionFAM111A mutations result in hypoparathyroidism and impaired skeletal developmentMolecular and clinical delineation of the 17q22 microdeletion phenotype.Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with Pamidronate.Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment.Further delineation of the KBG syndrome caused by ANKRD11 aberrations.Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis.Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two: Genoa, Italy. 28 September – 01 October 2016.A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.A case with bladder exstrophy and unbalanced X chromosome rearrangement.Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.Metacarpophalangeal pattern profile analysis in Leri-Weill dyschondrosteosis.Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia.Deconvolution of seed and RNA-binding protein crosstalk in RNAi-based functional genomics.Autosomal recessive brachyolmia: early radiological findings.Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan GlycosylationAutosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural courseAnalysis of short stature homeobox-containing gene ( SHOX ) and auxological phenotype in dyschondrosteosis and isolated Madelung deformityGrowth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohortThe phenotype range of achondrogenesis 1A
P50
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P50
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