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Bone dysplasias : an atlas of genetic disorders of skeletal development

Author: Jürgen W Spranger
Publisher: Oxford ; Oxford University Press, [2018]
Edition/Format:   Print book : English : Fourth editionView all editions and formats
Summary:

Rev. ed. of: Bone dysplasias / Jeurgen W. Spranger ... [et al.]. 3rd ed. 2012.

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Genre/Form: Atlas
Scientific atlases
Atlases
Material Type: Internet resource
Document Type: Book, Internet Resource
All Authors / Contributors: Jürgen W Spranger
ISBN: 9780190626655 0190626658
OCLC Number: 1084618687
Notes: Rev. ed. of: Bone dysplasias / Jürgen W. Spranger ... [et al.]. 3rd ed. 2012.
Description: xxiv, 901 pages : illustrations. ; 28 cm
Contents: Achondroplasia and Related FGFR3 Conditions --
Pseudoachondroplasia and dominant epiphyseal dysplasia --
Dysplasias with predominant metaphyseal involvement --
Spondyloepiphyseal dysplasia conjenita and related type 2/Type 11 collagen disorder --
Mucopolysaccaccharidoses and oligosaccharidoses --
Metatropic dysplasia and other TRPV4-related skeletal dysplasias --
Spondylo-epi-metaphyseal and spondylo-metaphyseal dysplasias --
Diastrophic dysplasia and related conditions, and dysplasias with joint dislocation --
Filamin-associated Dysplasias/Dysostoses and related disorders --
Punctate calcification group --
Short-rib (± polydactyly) dysplasias --
Rhizo-mesomelic dysplasias --
Acromesomelic and acromelic Dysplasias/Dysostoses --
Osteogenesis Imperfecta and other Disorders with Decreased Bone Density --
Dysorders with defective mineralization --
Dense bone dysplasias with normal bone shape --
Dense bone dysplasias with meta-diaphyseal modeling defects --
Ostelyses --
Disorders caused by disorganisation of skeletal constituents --
Polytopic dysostoses --
Disorders with prenatal short stature and slender bones --
Overgrowth/accelerated skeletal maturation syndromes (selected) --
Craniosynostosis syndromes --
Spondylocostal dysostoses (SCD) --
Limb aplasias and hypoplasias (selected) --
Disorders with defective joint formation.
Responsibility: Jürgen W. Spranger, MD [and five others].

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No books come to mind for comparison. This is a unique and high-quality publication that should be considered essential for teaching and practicing medical genetics. * Luis F Escobar, Doodys *

 
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