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Congenital brachymetatarsia and Turner syndrome.
Formosa N, Buttigieg M, Torpiano J. Formosa N, et al. Arch Dis Child. 2016 Apr;101(4):332. doi: 10.1136/archdischild-2015-309707. Epub 2015 Nov 18. Arch Dis Child. 2016. PMID: 26582826 No abstract available.
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: formosa n. J Clin Invest. 2021 Dec 15;131(24):e141587. doi: 10.1172/JCI141587. J Clin Invest. 2021. PMID: 34730112 Free PMC article.