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Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

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Hypomorphic Mutations Identified in the Candidate Leber Congenital Amaurosis Gene CLUAP1

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SLC10A7 Mutations Cause a Skeletal Dysplasia With Amelogenesis Imperfecta Mediated by GAG Biosynthesis Defects

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Vasculitis as a Major Morbidity Factor in Patients With Hypomorphic RAG Mutations

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Mutations in SOX2 Cause Anophthalmia

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De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

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Bi-Allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy With Brain Malformation

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Multiple Epiphyseal Dysplasia Mutations inMATN3 Cause Misfolding of the A-Domain and Prevent Secretion of Mutant Matrilin-3

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ACTN1 Mutations Cause Congenital Macrothrombocytopenia

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