Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms
Cassin, Jessica, Stamou, Maria I, Keefe, Kimberly W, Sung, Kaitlin E, Bojo, Celine C, Tonsfeldt, Karen J, Rojas, Rebecca A, Ferreira Lopes, Vanessa, Plummer, Lacey, Salnikov, Kathryn B, Keefe, Jr, David L, Ozata, Metin, Genel, Myron, Georgopoulos, Neoklis A, Hall, Janet E, Crowley, Jr, William F, Seminara, Stephanie B, Mellon, Pamela L, Balasubramanian, Ravikumar
Published in JCI insight (08.02.2023)
Published in JCI insight (08.02.2023)
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Journal Article
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants
Rojas, Rebecca A., Kutateladze, Anna A., Plummer, Lacey, Stamou, Maria, Keefe, David L., Salnikov, Kathryn B., Delaney, Angela, Hall, Janet E., Sadreyev, Ruslan, Ji, Fei, Fliers, Eric, Gambosova, Katarina, Quinton, Richard, Merino, Paulina M., Mericq, Veronica, Seminara, Stephanie B., Crowley, William F., Balasubramanian, Ravikumar
Published in Genetics in medicine (01.06.2023)
Published in Genetics in medicine (01.06.2023)
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Journal Article
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants
Rojas, Rebecca A., Kutateladze, Anna A., Plummer, Lacey, Stamou, Maria, Keefe, David L., Salnikov, Kathryn B., Delaney, Angela, Hall, Janet E., Sadreyev, Ruslan, Ji, Fei, Fliers, Eric, Gambosova, Katarina, Quinton, Richard, Merino, Paulina M., Mericq, Veronica, Seminara, Stephanie B., Crowley, William F., Balasubramanian, Ravikumar
Published in Genetics in medicine (01.04.2021)
Published in Genetics in medicine (01.04.2021)
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Journal Article
Phenotypic continuum between Waardenburg syndrome and Idiopathic Hypogonadotropic Hypogonadism in humans with SOX10 mutations
Rojas, Rebecca A., Kutateladze, Anna A., Plummer, Lacey, Stamou, Maria, Keefe, David L., Salnikov, Kathyrn B., Delaney, Angela, Hall, Janet E., Sadreyev, Ruslan, Ji, Fei, Fliers, Eric, Gambosova, Katarina, Quinton, Richard, Merino, Paulina M, Mericq, Veronica, Seminara, Stephanie B, Crowley, William F., Balasubramanian, Ravikumar
Published in Genetics in medicine (13.01.2021)
Published in Genetics in medicine (13.01.2021)
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Journal Article