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1.	Berenbaum, S, et al. (author) Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society 2002 In: Hormone research. - : S. Karger AG. - 0301-0163. ; 58:4, s. 188-195 Journal article (peer-reviewed)
2.	Berenbaum, S, et al. (author) Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology 2002 In: The Journal of clinical endocrinology and metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 87:9, s. 4048-4053 Journal article (peer-reviewed)
3.	Lagerström-Fermér, Maria, et al. (author) X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26 1997 In: American Journal of Human Genetics. - 0002-9297 .- 1537-6605. ; 60:4, s. 910-916 Journal article (peer-reviewed)abstract We present a linkage analysis and a clinical update on a previously reported family with X-linked recessive panhypopituitarism, now in its fourth generation. Affected members exhibit variable degrees of hypopituitarism and mental retardation. The markers DXS737 and DXS1187 in the q25-q26 region of the X chromosome showed evidence for linkage with a peak LOD score (Zmax) of 4.12 at zero recombination fraction (theta(max) = 0). An apparent extra copy of the marker DXS102, observed in the region of the disease gene in affected males and heterozygous carrier females, suggests that a segment including this marker is duplicated. The gene causing this disorder appears to code for a dosage-sensitive protein central to development of the pituitary.

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Type of publication: journal article (3)

Type of content: peer-reviewed (3)

Author/Editor: Warne, GL (3); Muller, J. (2); Peter, M. (2); Wedell, A (2); Hagenfeldt, K (2); Clayton, P. (2); show more...; Saenger, P. (2); HINTZ, RL (2); Sippell, WG (2); Berenbaum, S (2); Chrousos, G (2); Cutler, G (2); Keizer-Schrama, SD (2); Donahoe, PK (2); Donaldson, M (2); Forest, M (2); Fujieda, K (2); Ginalska-Malinowska, ... (2); Grumbach, MM (2); Gruters, A (2); Honour, JW (2); Hughes, IA (2); Kuhnle-Krahl, U (2); Lee, PA (2); Meyer-Bahlburg, H (2); Migeon, C (2); Miller, WL (2); New, MI (2); Oberfield, SE (2); Ritzen, EM (2); Savage, MO (2); Schober, JM (2); Solyom, J (2); Speiser, PW (2); Therrell, BL (2); Van Wyk, JJ (2); White, PC (2); Wildt, L (2); Witchell, S (2); Hindmarsh, PC (2); Holmes, LB (2); Ibanez, L (2); Levine, LS (2); Richards, A. (1); Landegren, Ulf (1); Pettersson, Ulf (1); Pang, S (1); Sundvall, Mats (1); Ghizzoni, L (1); Donohoue, PA (1); show less...

University: Karolinska Institutet (2); Uppsala University (1)

Language: English (3)

Research subject (UKÄ/SCB): Medical and Health Sciences (1)

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