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Achondroplasia and Related FGFR3 Conditions 

Achondroplasia and Related FGFR3 Conditions
Chapter:
Achondroplasia and Related FGFR3 Conditions
Author(s):

Jürgen W. Spranger

, Paula W. Brill

, Christine Hall

, Gen Nishimura

, Andrea Superti-Furga

, and Sheila Unger

DOI:
10.1093/med/9780190626655.003.0001
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date: 29 October 2020

This chapter discusses achondroplasia and related FGFR3 conditions and explores thanatophoric dysplasia (Types 1 and 2), achondroplasia, hypochondroplasia, and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.

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