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Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum
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Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome
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Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability
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Barber-Say syndrome and Ablepharon-Macrostomia syndrome : an overview
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Y RIN2 syndrome : expanding the clinical phenotype
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Association between Kniest dysplasia and chondrosarcoma in a child
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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
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The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects
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Recurrent duplications of 17q12 associated with variable phenotypes
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Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: a case report suggesting a genotype-phenotype correlation