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Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases |
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| Authors: | Lauren Jeffries Jordan E. Olivieri Weizhen Ji Michele Spencer-Manzon Allen Bale Monica Konstantino Saquib A. Lakhani |
| Affiliation: | 1. Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA;2. Department of Genetics, Yale University School of Medicine, New Haven, CT, USA |
| Abstract: | |
| Keywords: | Corresponding author. Department of Pediatrics, Yale University School of Medicine, 333 Cedar Street, PO Box 208064, New Haven, CT, 06520-8064, USA. Kelch-like family member 7 KLHL7 Crisponi syndrome Bohring-opitz syndrome PERCHING |
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