Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.

Autor: Fu J; Department of Medicine, The University of Chicago, Chicago, Illinois.; Department of Endocrinology, First Affiliated Hospital of Xi'an Jiaotong University School of Medicine, Xi'an, China., Korwutthikulrangsri M; Department of Medicine, The University of Chicago, Chicago, Illinois.; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand., Gönç EN; Division of Pediatric Endocrinology, Hacettepe University, Ankara, Turkey., Sillers L; Department of Medicine, The University of Chicago, Chicago, Illinois.; Division of Neonatology, The Children Hospital of Philadelphia, Pennsylvania., Liao XH; Department of Medicine, The University of Chicago, Chicago, Illinois., Alikaşifoğlu A; Division of Pediatric Endocrinology, Hacettepe University, Ankara, Turkey., Kandemir N; Division of Pediatric Endocrinology, Hacettepe University, Ankara, Turkey., Menucci MB; Department of Medicine, MedStar Washington Hospital Center, Washington, DC., Burman KD; Department of Medicine, MedStar Washington Hospital Center, Washington, DC., Weiss RE; Department of Medicine, University of Miami Miller School of Medicine, Miami, Florida., Dumitrescu AM; Department of Medicine, The University of Chicago, Chicago, Illinois.; Committee of Molecular Metabolism and Nutrition, The University of Chicago, Chicago, Illinois.

Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2020 Mar 01; Vol. 105 (3).