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Hereditary Sensory Polyneuropathy, Pain Insensitivity and Global Developmental Delay due to Novel Mutation in PRDM12 Gene

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References

  1. Dyck P, Chance P, Lebo R, Carney J. Hereditary motor and sensory neuropathies. In: Dyck PJ, Griffin JW, Low P, Poduslo JF, editors. Peripheral neuropathy. 3rd ed. Philadelphia: W.B. Saunders; 1993. p. 1094–136.

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  3. Chen YC, Auer-Grumbach M, Matsukawa S, et al. Transcriptional regulator PRDM12 is essential for human pain perception. Nat Genet. 2015;47:803–8.

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Contributions

AGS: Patient management, draft of manuscript and review of literature; HP: Patient management and draft of manuscript; JKS: Patient management and final review of manuscript for intellectual content; IK and MV: Genetic analysis and final review of manuscript for intellectual content; PS: Clinician-in-charge, critical review of manuscript for intellectual content and final approval of the version to be published.

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Authors and Affiliations

  1. Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India

    Arushi Gahlot Saini, Hansashree Padmanabh, Jitendra Kumar Sahu & Pratibha Singhi

  2. Institute of Human Genetics, Jena University Hospital, 07743, Jena, Germany

    Ingo Kurth & Martin Voigt

Authors
  1. Arushi Gahlot Saini
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  2. Hansashree Padmanabh
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  3. Jitendra Kumar Sahu
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  4. Ingo Kurth
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  5. Martin Voigt
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  6. Pratibha Singhi
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Corresponding author

Correspondence to Pratibha Singhi.

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Saini, A.G., Padmanabh, H., Sahu, J.K. et al. Hereditary Sensory Polyneuropathy, Pain Insensitivity and Global Developmental Delay due to Novel Mutation in PRDM12 Gene. Indian J Pediatr 84, 332–333 (2017). https://doi.org/10.1007/s12098-016-2284-y

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  • DOI: https://doi.org/10.1007/s12098-016-2284-y

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