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Advanced bone age in a girl with Wiedemann–Steiner syndrome and an exonic deletion in KMT2A (MLL)
Authors:Bryce A. Mendelsohn  Melissa Pronold  Roger Long  Nizar Smaoui  Anne M. Slavotinek
Affiliation:1. Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California;2. Department of Laboratory Medicine, University of California San Francisco, San Francisco, California;3. Division of Endocrinology, Department of Pediatrics, University of California San Francisco, San Francisco, California;4. GeneDx, Inc., Gaithersburg, Maryland
Abstract:
Keywords:Wiedemann–  Steiner  MLL  KMT2A  hypertrichosis  developmental delay  bone age  array comparative genomic hybridization  congenital hip dysplasia  vesicoureteral reflux  short stature
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