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1998
2025

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Year Number of Results
1998 3
1999 1
2000 2
2001 6
2002 2
2003 1
2004 4
2006 1
2025 0

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Page 1
Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.
Zhang YH, Huang BL, Anyane-Yeboa K, Carvalho JA, Clemons RD, Cole T, De Figueiredo BC, Lubinsky M, Metzger DL, Quadrelli R, Repaske DR, Reyno S, Seaver LH, Vaglio A, Van Vliet G, McCabe LL, McCabe ER, Phelan JK. Zhang YH, et al. Hum Mutat. 2001 Dec;18(6):547. doi: 10.1002/humu.1236. Hum Mutat. 2001. PMID: 11748852
Thanatophoric dysplasia type I with syndactyly.
Brodie SG, Kitoh H, Lipson M, Sifry-Platt M, Wilcox WR. Brodie SG, et al. Am J Med Genet. 1998 Nov 16;80(3):260-2. doi: 10.1002/(sici)1096-8628(19981116)80:3<260::aid-ajmg15>3.0.co;2-s. Am J Med Genet. 1998. PMID: 9843049
19 results