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Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Martin EMMA, Enriquez A, Sparrow DB, Humphreys DT, McInerney-Leo AM, Leo PJ, Duncan EL, Iyer KR, Greasby JA, Ip E, Giannoulatou E, Sheng D, Wohler E, Dimartino C, Amiel J, Capri Y, Lehalle D, Mory A, Wilnai Y, Lebenthal Y, Gharavi AG, Krzemień GG, Miklaszewska M, Steiner RD, Raggio C, Blank R, Baris Feldman H, Milo Rasouly H, Sobreira NLM, Jobling R, Gordon CT, Giampietro PF, Dunwoodie SL, Chapman G. Martin EMMA, et al. Among authors: lebenthal y. Hum Mol Genet. 2020 Dec 4;29(22):3662-3678. doi: 10.1093/hmg/ddaa258. Hum Mol Genet. 2020. PMID: 33276377 Free PMC article.
Body composition in children and adolescents with non-classic congenital adrenal hyperplasia and the risk for components of metabolic syndrome: An observational study.
Ben Simon A, Brener A, Segev-Becker A, Yackobovitch-Gavan M, Uretzky A, Schachter Davidov A, Alaev A, Oren A, Eyal O, Weintrob N, Lebenthal Y. Ben Simon A, et al. Among authors: lebenthal y. Front Endocrinol (Lausanne). 2022 Oct 20;13:1022752. doi: 10.3389/fendo.2022.1022752. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36353234 Free PMC article.
128 results