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De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Ward SK, Wadley A, Tsai CA, Benke PJ, Emrick L, Fisher K, Houck KM, Dai H; Undiagnosed Diseases Network; Guillen Sacoto MJ, Craigen W, Glaser K, Murdock DR, Rohena L, Diderich KEM, Bruggenwirth HT, Lee B, Bacino C, Burrage LC, Rosenfeld JA. Ward SK, et al. Among authors: bruggenwirth ht. Am J Med Genet A. 2024 Jan;194(1):17-30. doi: 10.1002/ajmg.a.63399. Epub 2023 Sep 25. Am J Med Genet A. 2024. PMID: 37743782 Free PMC article.
Androgen receptor mutations.
Brinkmann AO, Jenster G, Ris-Stalpers C, van der Korput JA, Brüggenwirth HT, Boehmer AL, Trapman J. Brinkmann AO, et al. Among authors: bruggenwirth ht. J Steroid Biochem Mol Biol. 1995 Jun;53(1-6):443-8. doi: 10.1016/0960-0760(95)00090-m. J Steroid Biochem Mol Biol. 1995. PMID: 7626493 Free article. Review.
Molecular basis of androgen insensitivity.
Brinkmann A, Jenster G, Ris-Stalpers C, van der Korput H, Brüggenwirth H, Boehmer A, Trapman J. Brinkmann A, et al. Among authors: bruggenwirth h. Steroids. 1996 Apr;61(4):172-5. doi: 10.1016/0039-128x(96)00008-6. Steroids. 1996. PMID: 8732995 Free article. Review.
Molecular basis of androgen insensitivity.
Brüggenwirth HT, Boehmer AL, Verleun-Mooijman MC, Hoogenboezem T, Kleijer WJ, Otten BJ, Trapman J, Brinkmann AO. Brüggenwirth HT, et al. J Steroid Biochem Mol Biol. 1996 Aug;58(5-6):569-75. doi: 10.1016/0960-0760(96)00095-7. J Steroid Biochem Mol Biol. 1996. PMID: 8918984
Genotype versus phenotype in families with androgen insensitivity syndrome.
Boehmer AL, Brinkmann O, Brüggenwirth H, van Assendelft C, Otten BJ, Verleun-Mooijman MC, Niermeijer MF, Brunner HG, Rouwé CW, Waelkens JJ, Oostdijk W, Kleijer WJ, van der Kwast TH, de Vroede MA, Drop SL. Boehmer AL, et al. Among authors: bruggenwirth h. J Clin Endocrinol Metab. 2001 Sep;86(9):4151-60. doi: 10.1210/jcem.86.9.7825. J Clin Endocrinol Metab. 2001. PMID: 11549642 Free article.
Functional analysis of novel androgen receptor mutations in a unique cohort of Indonesian patients with a disorder of sex development.
Elfferich P, Juniarto AZ, Dubbink HJ, van Royen ME, Molier M, Hoogerbrugge J, Houtsmuller AB, Trapman J, Santosa A, de Jong FH, Drop SL, Faradz SM, Bruggenwirth H, Brinkmann AO. Elfferich P, et al. Among authors: bruggenwirth h. Sex Dev. 2009;3(5):237-44. doi: 10.1159/000252814. Epub 2009 Oct 23. Sex Dev. 2009. PMID: 19851057
83 results