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LP62: Utility of video-PSG in the early diagnosis of two patients with FFI

✍ Scribed by Ausin Morales, N.; Sanchez Horvath, M.; Fernandez Bedoya, A.I.; Martinez Zuluaga, A.; Santos Sanchez, C.; Yurrebaso Santamaria, I.

Book ID: 125803225
Publisher: Elsevier Science
Year: 2014
Tongue: English
Weight: 430 KB
Volume: 125
Category: Article
ISSN: 1388-2457
DOI: 10.1016/S1388-2457(14)51088-7

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## Abstract Hypochondroplasia (HCH) is the mildest phenotype among fibroblast growth factor receptor 3 (__FGFR3)__‐associated skeletal dysplasias. Affected individuals usually presents with mild short stature in preschool age. It was uncommon that a diagnosis of HCH is made in young affected childr