Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.

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作者： Jin-Ho,Choi ^[1] ; Ravikumar,Balasubramanian ^[1] ; Phil H,Lee ^[1] ; Natalie D,Shaw ^[1] ; Janet E,Hall ^[1] ; Lacey,Plummer ^[1] ; Cassandra L,Buck ^[1] ; Marie-Laure,Kottler ^[1] ; Katarzyna,Jarzabek ^[1] ; Sławomir,Wołczynski ^[1] ; Richard,Quinton ^[1] ; Ana Claudia,Latronico ^[1] ; Catherine,Dode ^[1] ; Tsutomu,Ogata ^[1] ; Hyung-Goo,Kim ^[1] ; Lawrence C,Layman ^[1] ; James F,Gusella ^[1] ; William F,Crowley ^[1]

作者单位： Harvard Reproductive Endocrine Sciences Center and Reproductive Endocrine Unit (J.-H.C., R.B., N.D.S., J.E.H., L.P., C.L.B., W.F.C.), and Department of Medicine, Psychiatric, and Neurodevelopmental Genetics Unit (P.H.L.), Analytic and Translational Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, and Center for Human Genetic Research (J.F.G.), Massachusetts General Hospital, and Department of Genetics, Harvard Medical School, Boston, Massachusetts Boston, Massachusetts 02114; Department of Genetics (M.-L.K.), University Hospital, Caen, 14003, Caen Cedex, France; Department of Biology and Pathology of Human Reproduction in Bialystok (K.J.), Institute of Animal Reproduction and Food Research, Polish Academy of Sciences, Olsztyn, and Department of Reproduction and Gynecological Endocrinology (S.W.), Medical University of Bialystok, Sklodowskiej 24A, 15-276 Bialystok, Poland; Institute for Genetic Medicine (R.Q.), Newcastle University, Newcastle-upon-Tyne, NE1 3BZ, United Kingdom; Disciplina de Endocrinologia (A.C.L.), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo, 05403-900 Sao Paulo, Brazil; Laboratoire de Biochimie et Génétique Moléculaire (C.D.), Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Université Paris-Descartes, 75014 Paris, France; Departments of Molecular Endocrinology and Pediatrics (T.O.), Hamamatsu University of School of Medicine, Hamamatsu 431-3192, Japan; Section of Reproductive Endocrinology, Infertility, and Genetics (H.-G.K., L.C.L.), Departments of Obstetrics and Gynecology and Neuroscience and Regenerative Medicine, Medical College of Georgia at Georgia Regents University, Augusta, Georgia 30912; and Department of Pediatrics (J.-H.C.), Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul 138-736, Republic of Korea. ^[1]