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High-throughput Saccharification Assay for Lignocellulosic Materials
Published on: July 3, 2011
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Lise Graversen1,2, Annette Haagerup3,4, Brian N Andersen1
1Pediatrics and Adolescent Medicine Centre for Rare Diseases Aarhus University Hospital Aarhus Denmark.
Clinical Case Reports
|September 15, 2018
Abstract:
We present a girl born with a frontal bossing, short neck, bell-shaped thorax, short limbs with prominent joints, and a tail-like coccygeal appendage. Genetic screening of TRPV4 identified a novel de novo heterozygous missense variant. We believe the variant causes the severe form of metatropic dysplasia in this patient.
