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Patient samples and informed consent

SH Sungkook Hong
PH Ping Hu
ER Erich Roessler
TH Tommy Hu
MM Maximilian Muenke
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All subjects provided informed consent for themselves and their affected children using approved forms and oversight from our NIH, NHGRI Institutional Review Board. Anonymous samples were obtained from our Brazilian colleagues by full-status collaboration, informed consent review and a total of 50 anonymous cases were added via an amendment to our larger Flagship study (Roessler et al., manuscript in preparation). Institutional approval has been obtained for data sharing with investigators studying brain development and HPE. Medically relevant FGF8 or SHH variants have been deposited into ClinVar.

Copyright and License information:  ©2018 Published by Oxford University Press 2018. This work is written by US Government employees and is in the public domain in the US.
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