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Paper Details

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).
Am J Med Genet A
28
2020
POGZ, POGZ variants, WHSUS, White-Sutton syndrome, allelic, autism, broad forehead, broad nasal root, developmental delay, flat nasal bridge, gait abnormalities, genetic disorder, genitourinary anomalies, hearing loss, intellectual disability, microcephaly, midface hypoplasia, obstructive sleep apnea, ocular abnormalities, sleep disordered breathing, speech delay, triangular mouth
Author NameAffiliation
Jennifer E PoseyBaylor College of Medicine
Zeynep Coban AkdemirBaylor College of Medicine
Richard H ScottClinical Genetics Unit, Great Ormond Street Hospital for Children NHS Trust
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
Vernon R SuttonBaylor College of Medicine
Vernon R SuttonTexas Children's Hospital
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Release 1.2