A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33–34-Reference-Cited by-同舟云学术

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A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33–34

Published:2007-01-03 Issue:2 Volume:121 Page:269-273
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Isidor B.,Dagoneau N.,Huber C.,Genevieve D.,Bader-Meunier B.,Blanche S.,Picard C.,De Vernejoul M. C.,Munnich A.,Le Merrer M.,Cormier-Daire V.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-006-0311-1.pdf

Reference9 articles.

1. Alebouyeh M, Vossough P, Tabarrok F (2003) Early manifestation of Ghosal type hematodiaphyseal dysplasia. Pediatr Hematol Oncol 20:409–415

2. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152–154

3. Frattini A, Orchard PJ, Sobacchi C, Giliani S, Abinun M, Mattsson JP, Keeling DJ, Andersson A-K, Wallbrandt P, Zecca L, Notarangelo LD, Vezzoni P, Villa A (2000) Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet 25:343–346

4. Ghosal SP, Mukherjee AK, Mukherjee D, Ghosh AK (1988) Diaphyseal dysplasia associated with anemia. J Pediatr 113:49–57

5. Gumruk F, Besim A, Altay C (1993) Ghosal haematodiaphyseal dysplasia: a new disorder. Eur J Pediatr 152:218–221

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1. Ghosal hematodiaphyseal dysplasia – A remediable cause of refractory anemia: A case report;Pediatric Hematology Oncology Journal;2023-12

2. Cytochrome P450;Encyclopedia of Gastroenterology;2020

3. Sclerosing bone dysplasias;Best Practice & Research Clinical Endocrinology & Metabolism;2018-10

4. Chronic steroid-response pancytopenia and increased bone density due to thromboxane synthase deficiency;Pediatric Blood & Cancer;2017-09-04

5. Steroid-responsive Anemia in Patients of Ghosal Hematodiaphyseal Dysplasia;Journal of Pediatric Hematology/Oncology;2015-05

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