1 Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, The University of Pennsylvania School of Medicine, Philadelphia, USA 2 The Wistar Institute, and The ...
We report the dysmorphological, genetic, and speech therapy aspects of 38 cases of velocardiofacial syndrome presenting to a craniofacial clinic and a specialised children's hospital, to indicate a ...
Background: Deletions of chromosome 19 have rarely been reported, with the exception of some patients with deletion 19q13.2 and Blackfan–Diamond syndrome due to haploinsufficiency of the RPS19 gene.
Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes ...
Background: Microdeletions at 17q21.31 have recently been shown to cause a novel syndrome. Here we identify the reciprocal 17q21.31 duplication syndrome in 4 patients. Method: Patients with the ...
Department of Physiology, Biophysics, and Neuroscience, Center for Research and Advanced Studies of the National Polytechnic Institute (Cinvestav-IPN), Mexico ...
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1 Centre for Diabetes and Endocrine Research, University of Queensland School of Medicine, Princess Alexandra Hospital, Ipswich Rd, Woolloongabba, Qld 4102, Australia 2 The Queensland Institute of ...
7 INSERM U621, IFR 14, Groupe Hospitalier Pitié-Salpêtrière, Paris, France 8 Laboratoire de génétique et insuffisance cardiaque, Association Claude Bernard, IFR 14, Groupe Hospitalier ...
Facioscapulohumeral muscular dystrophy (FHSD) is a genetically heterogeneous, autosomal dominant primary disease of muscle. The predominant form of FSHD, which has been designated FSHD1A, has been ...
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