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Adult presentation of X‐linked Conradi‐Hünermann‐Happle syndrome
Authors:Jennifer E. Posey  Lindsay C. Burrage  Philippe M. Campeau  James T. Lu  Tanya N. Eble  Lisa Kratz  Alan E. Schlesinger  Richard A. Gibbs  Brendan H. Lee  Sandesh C.S. Nagamani
Affiliation:1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas;2. Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas;3. Department of Structural and Computational Biology & Molecular Physics, Baylor College of Medicine, Houston, Texas;4. Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland;5. Department of Pediatric Radiology, Texas Children's Hospital, Houston, Texas;6. Howard Hughes Medical Institute, Houston, Texas
Abstract:
Keywords:chondrodysplasia punctata  cataract  ichthyosis  EBP
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