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Paper Details

Clinical and molecular spectrum of CHOPS syndrome.
Am J Med Genet A
13
2019
AFF4, AFF4 gene, AFF4 mutations, ALF homology domain, CHOPS syndrome, Congenital heart disease, Cornelia de Lange syndrome, Skeletal abnormalities, abnormal shape of vertebral bodies, amino acid, arched eyebrows, coarse facies, cognitive impairment, heart defects, human, hypoplastic long bones, long eyelashes, low bone mineral density, multisystem disorder, obesity, patients, pulmonary involvement, short stature, synophrys, upturned nasal tip
Author NameAffiliation
Yiran GuoCenter for Data Driven Discovery in Biomedicine, Children's Hospital of Philadelphia
Yiran GuoCenter for Data Driven Discovery in Biomedicine, Children's Hospital of Philadelphia
Ian D KrantzThe Children's Hospital of Philadelphia
Ian D KrantzThe Children's Hospital of Philadelphia
Ian D KrantzThe Perelman School of Medicine at the University of Pennsylvania
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