Search results for "Langer-Giedion Syndrome"

showing 3 items of 3 documents

Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III.

2009

GeneticsAdolescentBase SequenceLanger-Giedion SyndromeDNA Mutational AnalysisMolecular Sequence DataInfantBiologymedicine.diseaseDNA-Binding ProteinsRepressor ProteinsSettore MED/38 - Pediatria Generale E SpecialisticaSettore MED/03 - Genetica MedicaMutationGeneticsmedicineTricho–rhino–phalangeal syndromeHumansIdentification (biology)FemaleTRICHO-RHINO-PHALNAGEAL SYNDORME TRPS GENEChildGeneGenetics (clinical)Transcription FactorsAmerican journal of medical genetics. Part A

researchProduct

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

1999

Tricho-rhino-phalangeal syndrome type I (TRPS I, MIM 190350) is a malformation syndrome characterized by craniofacial and skeletal abnormalities and is inherited in an autosomal dominant manner. TRPS I patients have sparse scalp hair, a bulbous tip of the nose, a long flat philtrum, a thin upper vermilion border and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations and short stature. We assigned TRPS1 to human chromosome 8q24. It maps proximal of EXT1, which is affected in a subgroup of patients with multiple cartilaginous exostoses and deleted in all patients with TRPS type II (TRPS II, or Langer-Giedion syndrome, MIM 150230; ref.2-5)…

MaleDNA Complementaryanimal structuresLanger-Giedion SyndromeMolecular Sequence DataBiologyLanger–Giedion syndromeOpen Reading FramesTRPS1 geneotorhinolaryngologic diseasesGeneticsmedicineTricho–rhino–phalangeal syndromeHumansGeneZinc fingerGeneticsSyndrome typeChromosome MappingZinc Fingersmedicine.diseaseBlotting NorthernPedigreeTrichorhinophalangeal syndromeMutationTrichorhinophalangeal Syndrome Type IFemaleChromosomes Human Pair 8Nature genetics

researchProduct

Impaired GH secretion in patients with SHOX deficiency and efficacy of recombinant human GH therapy.

2012

Background/Aims: Mutations of the short stature homeobox-containing (SHOX) gene on the pseudoautosomal region of the sex chromosomes cause short stature. GH treatment has been recently proposed to improve height in short patients with SHOX deficiency. The aim of this study was to evaluate GH secretion and analyze growth and safety of recombinant human GH (rhGH) therapy in short children and adolescents with SHOX deficiency. Patients and Design: We studied 16 patients (10 females; 9.7 ± 2.9 years old; height –2.46 ± 0.82 standard deviation score, SDS) with SHOX deficiency. All subjects underwent au…

MaleLanger-Giedion SyndromeEndocrinology Diabetes and MetabolismSHOX deficiencyPseudoautosomal regionMadelung deformityLer Weill syndromelaw.inventionEndocrinologySettore MED/38 - Pediatria Generale E SpecialisticaShort Stature Homeobox ProteinGH treatmentShort Stature Homeobox ProteinlawSHOX DeficiencyChildGrowth DisordersHuman Growth HormoneGrowth hormone secretionRecombinant ProteinsGHRecombinant Human GHChild PreschoolRecombinant DNAFemalemedicine.symptomSHOX Deficiencymedicine.medical_specialtyAdolescentNoseOsteochondrodysplasiasShort statureFingersInternal medicinemedicineHumansLéri–Weill dyschondrosteosisGeneLeri-Weill dyschondrosteosiHomeodomain Proteinsbusiness.industrymedicine.diseaseBody HeightSHOX Deficiency; Ler Weill syndrome; Recombinant Human GHShort statureEndocrinologyGrowth HormonePediatrics Perinatology and Child HealthbusinessHair DiseasesSHOX

researchProduct