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Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [And] German Diabetes Association|June 5, 2008
Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcificationsB Kremke, C Bergwitz, W Ahrens, et al.
Endocrine Connections|September 16, 2022
A critical evaluation of the EU-virtual consultation platform (CPMS) within the European Reference Network on Rare Endocrine ConditionsE K White, I V Wagner, C van Beuzekom, et al.
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete|November 5, 2005
[Calcinosis cutis in Albright hereditary osteodystrophy: pseudohypoparathyroidism type Ia]R Fölster-Holst, F G Riepe, W Ahrens, et al.
The Journal of Clinical Endocrinology and Metabolism|August 1, 1996
Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiencyZ Hochberg, R Chayen, N Reiss, et al.
Pediatric Research|December 10, 1999
Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndromeP M Holterhus, J Wiebel, G H Sinnecker, et al.
The Journal of Clinical Endocrinology and Metabolism|April 22, 2011
Analysis of the Wilms' tumor suppressor gene (WT1) in patients 46,XY disorders of sex developmentB Köhler, H Biebermann, V Friedsam, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|February 12, 2011
Androgen receptor mutations are associated with altered epigenomic programming as evidenced by HOXA5 methylationS Bens, O Ammerpohl, J I Martin-Subero, et al.
European Journal of Pediatrics|March 27, 1999
Defective sexual development in an infant with 46, XY, der(9)t(8;9)(q23.1;p23)matR A Pfeiffer, A Rauch, U Trautmann, et al.
European Journal of Endocrinology|October 10, 2018
GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’L Audi, S F Ahmed, N Krone, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|March 9, 2012
Testosterone synthesis in patients with 17β-hydroxysteroid dehydrogenase 3 deficiencyR Werner, A Kulle, I Sommerfeld, et al.
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