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Xu, C. Ghosal Hematodiaphyseal Dysplasia. Encyclopedia. Available online: https://encyclopedia.pub/entry/3996 (accessed on 29 September 2026).
Xu C. Ghosal Hematodiaphyseal Dysplasia. Encyclopedia. Available at: https://encyclopedia.pub/entry/3996. Accessed September 29, 2026.
Xu, Camila. "Ghosal Hematodiaphyseal Dysplasia" Encyclopedia, https://encyclopedia.pub/entry/3996 (accessed September 29, 2026).
Xu, C. (2020, December 23). Ghosal Hematodiaphyseal Dysplasia. In Encyclopedia. https://encyclopedia.pub/entry/3996
Xu, Camila. "Ghosal Hematodiaphyseal Dysplasia." Encyclopedia. Web. 23 December, 2020.
Ghosal Hematodiaphyseal Dysplasia
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/ghosal-hematodiaphyseal-dysplasia

Ghosal hematodiaphyseal dysplasia is a rare inherited condition characterized by abnormally thick bones and a shortage of red blood cells (anemia). Signs and symptoms of the condition become apparent in early childhood.

genetic conditions

References

  1. Geneviève D, Proulle V, Isidor B, Bellais S, Serre V, Djouadi F, Picard C,Vignon-Savoye C, Bader-Meunier B, Blanche S, de Vernejoul MC, Legeai-Mallet L,Fischer AM, Le Merrer M, Dreyfus M, Gaussem P, Munnich A, Cormier-Daire V.Thromboxane synthase mutations in an increased bone density disorder (Ghosalsyndrome). Nat Genet. 2008 Mar;40(3):284-6. doi: 10.1038/ng.2007.66.
  2. Ghosal SP, Mukherjee AK, Mukherjee D, Ghosh AK. Diaphyseal dysplasiaassociated with anemia. J Pediatr. 1988 Jul;113(1 Pt 1):49-57. Erratum in: JPediatr 1988 Aug;113(2):410.
  3. Gümrük F, Besim A, Altay C. Ghosal haemato-diaphyseal dysplasia: a newdisorder. Eur J Pediatr. 1993 Mar;152(3):218-21.
  4. Isidor B, Dagoneau N, Huber C, Genevieve D, Bader-Meunier B, Blanche S, PicardC, De Vernejoul MC, Munnich A, Le Merrer M, Cormier-Daire V. A gene responsiblefor Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34. Hum Genet.2007 Apr;121(2):269-73.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 686
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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