Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.

"The authors have no conflict of interest to declare. We thank Yuqing Chen for technical assistance, and Shalini N. Jhangiani for exome sequencing coordination. Funding was provided by NIH grants P01 HD22657 (BHL, DHC), P01 HD070394 (BHL), R01 AR062651 (DHC), R01 DE019567 (DHC), U54 HG006542 (RAG) and U54 HG003273-09 (RAG). Funding was also provided by The Rolanette and Berdon Lawrence Bone Disease Program of Texas (BL). PMC was supported by a CIHR clinician–scientist training award and JTL is supported by Ruth L. Kirschstein National Research Service Award F30 MH098571-01."

"The authors have no conflict of interest to declare. We thank Yuqing Chen for technical assistance, and Shalini N. Jhangiani for exome sequencing coordination. Funding was provided by NIH grants P01 HD22657 (BHL, DHC), P01 HD070394 (BHL), R01 AR062651 (DHC), R01 DE019567 (DHC), U54 HG006542 (RAG) and U54 HG003273-09 (RAG). Funding was also provided by The Rolanette and Berdon Lawrence Bone Disease Program of Texas (BL). PMC was supported by a CIHR clinician–scientist training award and JTL is supported by Ruth L. Kirschstein National Research Service Award F30 MH098571-01."