Natural history of rhizomelic chondrodysplasia punctata

White, Amy L., Modaff, Peggy, Holland‐Morris, Francesca, Pauli, Richard M.·2003·American Journal of Medical Genetics Part A
DOI 10.1002/ajmg.a.20009

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  9. A Missense Mutation of G257A at Exon 3 in PEX7 CDS Was Responsible for the Incidence of Rhizomelic Chondrodysplasia Punctata Type 1
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  21. Cervical corpectomy in a pediatric patient with chondrodysplasia punctata and C5 dysplasia with spinal cord compression: illustrative case
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  22. Neonatal Presentation of Rhizomelic Chondrodysplasia Punctata: Spot Diagnosis and Myriads of Unmet Needs
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