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Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

Authors

  1. Correspondence to Ange-Line Bruel, Genetics of Developmental Disorders, Bât B3, Université de Bourgogne-Franche Comté, Dijon 21070, France; ange-line.bruel{at}u-bourgogne.fr and Dr Julien Thevenon, Centre de génétique, Hôpital Couple-Enfant, CHU de Grenoble-Alpes, Avenue Maquis du Grésivaudan, La Tronche 38700, France; jthevenon{at}chu-grenoble.fr
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Citation

Bruel A, Bigoni S, Kennedy J, et al
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

Publication history

  • Received 19 April 2017
  • Revised 13 September 2017
  • Accepted 30 September 2017
  • Published online 26 October 2017.

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