about
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndromeTruncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosisTCTN3 mutations cause Mohr-Majewski syndromeThe impairment of MAGMAS function in human is responsible for a severe skeletal dysplasiaExome sequencing identifies INPPL1 mutations as a cause of opsismodysplasiaMainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutationsFurther delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesisADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulationMutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type MaroteauxADAMTS10 mutations in autosomal recessive Weill-Marchesani syndromeA novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndromeDYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type IIILoss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndromeClinical homogeneity and genetic heterogeneity in Weill-Marchesani syndromeChloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosisMutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndromeHomozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2The ADAMTS(L) family and human genetic disordersNicolaides-Baraitser syndrome: Delineation of the phenotypeNovel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasiaExome sequencing identifies PDE4D mutations as another cause of acrodysostosisPrevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases.Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.Clinical utility gene card for: 3-M syndrome - update 2013.Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowthMyhre and LAPS syndromes: clinical and molecular review of 32 patients.Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndromeIdentification of mutations in CUL7 in 3-M syndrome.Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotypeNew insights into genotype-phenotype correlation for GLI3 mutations.Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).
P50
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P50
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Valérie Cormier-Daire
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Valérie Cormier-Daire
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Valérie Cormier-Daire
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Valérie Cormier-Daire
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Valérie Cormier-Daire
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