Presentation
Resources & publications
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2020Journal (source)J. Bone Miner. Res.Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe...
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2018Journal (source)J Med Genet
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfe...
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2018Journal (source)Eur J Hum Genet
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso...
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2018Journal (source)J Med Genet
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfe...
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2018Journal (source)Eur J Hum Genet
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso...
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2013Journal (source)Am J Hum Genet
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asp...