Citations for
1CDIDHH, MCDR1, PRDM13
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
Coolen M, Altin N, Rajamani K, Pereira E, Siquier-Pernet K, Puig Lombardi E, Moreno N, Barcia G, Yvert M, Laquerrière A, Pouliet A, Nitschké P, Boddaert N, Rausell A, Razavi F, Afenjar A, Billette de Villemeur T, Al-Maawali A, Al-Thihli K, Baptista J, Beleza-Meireles A, Garel C, Legendre M, Gelot A, Burglen L, Moutton S, Cantagrel V.
Am J Hum Genet. May 5;109(5):909-927. doi: 10.1016/j.ajhg.2022.03.010. Epub 2022 Apr 6. 2022
2CDIDHH, PRDM13
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.
J Clin Invest. Dec 15;131(24):e141587. doi: 10.1172/JCI141587 2021