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An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family

  • Marivi Cervera-Gaviria1Email author,
  • Miguel Angel Alcántara-Ortigoza2, 3,
  • Ariadna González-del Angel2, 3,
  • Paola Moyers-Pérez1,
  • Blanca Gabriela Lizet Legorreta-Ramírez4,
  • Nancy Barrera-Carmona5 and
  • Jaime Cervera-Gaviria6
BMC NeurologyBMC series – open, inclusive and trusted201616:147

https://doi.org/10.1186/s12883-016-0649-5

Received: 17 February 2016

Accepted: 26 July 2016

Published: 22 August 2016

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Open Peer Review reports

Pre-publication versions of this article are available by contacting info@biomedcentral.com.

Original Submission
17 Feb 2016 Submitted Original manuscript
Author responded Author comments
Reviewed Reviewer Report
Resubmission - Version 2
Submitted Manuscript version 2
Author responded Author comments
Reviewed Reviewer Report
Resubmission - Version 3
Submitted Manuscript version 3
Author responded Author comments
Resubmission - Version 4
Submitted Manuscript version 4
Publishing
26 Jul 2016 Editorially accepted
22 Aug 2016 Article published 10.1186/s12883-016-0649-5

How does Open Peer Review work?

Open peer review is a system where authors know who the reviewers are, and the reviewers know who the authors are. If the manuscript is accepted, the named reviewer reports are published alongside the article. Pre-publication versions of the article are available by contacting info@biomedcentral.com.

You can find further information about the peer review system here.

Authors’ Affiliations

(1)
Departamento de Genética Médica, Centro de Rehabilitación e Inclusión Infantil Teletón, Tlalnepantla, México
(2)
Laboratorio de Biología Molecular, Departamento de Genética Humana, Instituto Nacional de Pediatría, Ciudad de México, México
(3)
DNA-GEN, S.C. Centro de Alta Especialidad en Genética Humana, Ciudad de México, México
(4)
Departamento de Rehabilitación Pediátrica, Centro de Rehabilitación e Inclusión Infantil Teletón, Estado de México, México
(5)
Departamento de Neuropediatría, Centro de Rehabilitación e Inclusión Infantil Teletón, Estado de México, México
(6)
Servicio de Medicina Interna, Sociedad de Beneficencia Española, Ciudad de México, México

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