| 概要 |
Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism (CDIDHH) is a novel recessive syndrome associated with PRDM13 mutation. Patients exhibit intellectual disability, ataxia with cerebellar hypoplasia, scoliosis, and delayed puberty with congenital hypogonadotropic hypogonadism. PRDM13 belongs to the PRDM family of transcriptional regulators, and functions as an essential GABAergic cell-fate determinant in the spinal cord and the retina.
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| 著者 |
Whittaker DE, Oleari R, Gregory LC, Le Quesne-Stabej P, Williams HJ, 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 |
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