about
Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual DisabilityLoss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entityGPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.Mendelian diseases among Roman Jews: implications for the origins of disease alleles.Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia.Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experienceMucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.Skipped BSCL2 Transcript in Celia's Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and AdipogenesisReduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional studyPosterior fossa arachnoid cyst, tonsillar herniation, and syringomyelia in trichorhinophalangeal syndrome Type I.Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfectaLack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).Duplication 19q13-qter and deletion 19p13-pter arising from an inversion (19)(p13.3q13.3) of maternal origin.Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.Robinow syndrome with developmental brain dysplasia.Positional skull deformities in children: skull deformation without synostosis.[Schinzel-Giedion syndrome: a new mutation in SETBP1].Chiari type 1 anomaly in pseudohypoparathyroidism type Ia: pathogenetic hypothesis.[Congenital pachyonychia: A new case associated with the KRT17 gene].A new overgrowth syndrome is due to mutations in RNF125.[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype.Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement.A new form of complicated hereditary spastic paraplegia with cataracts, atretic ear canals and hypopigmentation.Schimke immunoosseous dysplasia: suggestions of genetic diversity.[Review of 22 patients with 22q11.2 deletion syndrome: phenotype spectrum].Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease.Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes.Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements.Guía de práctica clínica para el tratamiento del síndrome de Hunter
P50
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