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A Novel SEMA3G Mutation in Two Siblings Affected by Syndromic GnRH Deficiency.
Oleari R, André V, Lettieri A, Tahir S, Roth L, Paganoni A, Eberini I, Parravicini C, Scagliotti V, Cotellessa L, Bedogni F, De Martini LB, Corridori MV, Gulli S, Augustin HG, Gaston-Massuet C, Hussain K, Cariboni A. Oleari R, et al. Among authors: de martini lb. Neuroendocrinology. 2021;111(5):421-441. doi: 10.1159/000508375. Epub 2020 May 4. Neuroendocrinology. 2021. PMID: 32365351 Free article.
A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.
Whittaker DE, Oleari R, Gregory LC, Le Quesne-Stabej P, Williams HJ; GOSgene; Torpiano JG, Formosa N, Cachia MJ, Field D, Lettieri A, Ocaka LA, Paganoni AJ, Rajabali SH, Riegman KL, De Martini LB, Chaya T, Robinson IC, Furukawa T, Cariboni A, Basson MA, Dattani MT. Whittaker DE, et al. Among authors: de martini lb. J Clin Invest. 2021 Dec 15;131(24):e141587. doi: 10.1172/JCI141587. J Clin Invest. 2021. PMID: 34730112 Free PMC article.